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1.  4th Pediatric Allergy and Asthma Meeting (PAAM) 
Yavuz, S. Tolga | Koc, Ozan | Gungor, Ali | Gok, Faysal | Hawley, Jessica | O’Brien, Christopher | Thomas, Matthew | Brodlie, Malcolm | Michaelis, Louise | Mota, Inês | Gaspar, Ângela | Piedade, Susana | Sampaio, Graça | Dias, José Geraldo | Paiva, Miguel | Morais-Almeida, Mário | Madureira, Cristina | Lopes, Tânia | Lopes, Susana | Almeida, Filipa | Sequeira, Alexandra | Carvalho, Fernanda | Oliveira, José | Gay-Crosier, Fabienne | Nenciu, Ioana-Valentina | Nita, Andreia Florina | Ulmeanu, Alexandru | Oraseanu, Dumitru | Zapucioiu, Carmen | Machinena, Adrianna | Sánchez, Olga Domínguez | Lozano, Montserrat Alvaro | Feijoo, Rosa Jiménez | Blasco, Jaime Lozano | Gibert, Mònica Piquer | Muñoz, Mª Teresa Giner | da Costa, Marcia Dias | Martín, Ana Maria Plaza | Yilmaz, Ebru Arik | Cavkaytar, Özlem | Buyuktiryaki, Betul | Soyer, Ozge | Sackesen, Cansin | Netting, Merryn | El-Merhibi, Adaweyah | Gold, Michael | Quinn, Patrick | Penttila, Irmeli | Makrides, Maria | Giavi, Stavroula | Muraro, Antonella | Lauener, Roger | Mercenier, Annick | Bersuch, Eugen | Montagner, Isabella M. | Passioti, Maria | Celegato, Nicolò | Summermatter, Selina | Nutten, Sophie | Bourdeau, Tristan | Vissers, Yvonne M. | Papadopoulos, Nikolaos G. | van der Kleij, Hanneke | Warmenhoven, Hans | van Ree, Ronald | Pieters, Raymond | Opstelten, Dirk Jan | van Schijndel, Hans | Smit, Joost | Fitzsimons, Roisin | Timms, Victoria | Du Toit, George | Kaya, Guven | Gulec, Mustafa | Saldir, Mehmet | Sener, Osman | Hassan, Nagwa | Shaaban, Hala | El-Hariri, Hazem | Mahfouz, Ahmed Kamel Inas E. | Gabor, Papp | Gabor, Biro | Csaba, Kovacs | Chawes, Bo | Bønnelykke, Klaus | Stokholm, Jakob | Heickendorff, Lene | Brix, Susanne | Rasmussen, Morten | Bisgaard, Hans | Hallas, Henrik Wegener | Arianto, Lambang | Pincus, Maike | Keil, Thomas | Reich, Andreas | Wahn, Ulrich | Lau, Susanne | Grabenhenrich, Linus | Fagerstedt, Sara | Hesla, Helena Marell | Johansson, Emelie | Rosenlund, Helen | Mie, Axel | Scheynius, Annika | Alm, Johan | Esparza-Gordillo, Jorge | Matanovic, Anja | Marenholz, Ingo | Bauerfeind, Anja | Rohde, Klaus | Nemat, Katja | Lee-Kirsch, Min-Ae | Nordenskjöld, Magnus | Winge, Marten C.G. | Krüger, Renate | Beyer, Kirsten | Kalb, Birgit | Niggemann, Bodo | Hübner, Norbert | Cordell, Heather J. | Bradley, Maria | Lee, Young-Ae | Gough, Hannah | Schramm, Dirk | Beschorner, John | Schuster, Antje | Bauer, Carl-Peter | Forster, Johannes | Zepp, Fred | Bergmann, Renate | Bergmann, Karl | Garcia, Filipe Benito | Santos, Natacha | Pité, Helena | Papadopoulou, Athina | Mermiri, Despina | Xatziagorou, Elpida | Tsanakas, Ioannis | Lampidi, Stavroula | Priftis, Kostas | Fuertes, Elaine | Markevych, Iana | Bowatte, Gayan | Gruzieva, Olena | Gehring, Ulrike | Becker, Allan | Berdel, Dietrich | Brauer, Michael | Carlsten, Chris | Hoffmann, Barbara | Kozyrskyj, Anita | Lodge, Caroline | Pershagen, Göran | Wijga, Alet | Joachim, Heinrich | Zivkovic, Zorica | Djuric-Filipovic, Ivana | Jocić-Stevanovic, Jasmina | Zivanovic, Snežana | Taka, Styliani | Kokkinou, Dimitra | Papakonstantinou, Aliki | Stefanopoulou, Panagiota | Georgountzou, Anastasia | Maggina, Paraskevi | Stamataki, Sofia | Papaevanggelou, Vassiliki | Andreakos, Evangelos | Gibert, Monica Piquer | Spera, Adriana Machinena | Deliu, Matea | Belgrave, Danielle | Simpson, Angela | Custovic, Adnan | Marques, João Gaspar | Carreiro-Martins, Pedro | Belo, Joana | Serranho, Sara | Peralta, Isabel | Neuparth, Nuno | Leiria-Pinto, Paula | Vazquez-Ortiz, Marta | Pascal, Mariona | Plaza, Ana Maria | Juan, Manel | Paparo, Lorella | Nocerino, Rita | Aitoro, Rosita | Langella, Ilaria | Amoroso, Antonio | Amoroso, Alessia | Di Scala, Carmen | Berni Canani, Roberto | Maity, Santanu | Rotiroti, Giuseppina | Gandhi, Minal | Jonsson, Karin | Ljung, Annika | Hesselmar, Bill | Adlerbert, Ingegerd | Brekke, Hilde | Johansen, Susanne | Wold, Agnes | Sandberg, Ann-Sofie | Nordlund, Björn | Lundholm, Cecilia | Ullemar, Villhelmina | van Hage, Marianne | Örtqvist, Anne | Almqvist, Catarina | Selby, Anna | Grimshaw, Kate | Clausen, Michael | Dubakiene, Ruta | Fiocchi, Alessandro | Kowalski, Marek | Papadopoulos, Nikos | Reche, Marta | Sigurdardottir, Sigurveig | Sprikkleman, Aline | Xepapadaki, Paraskevi | Mills, Clare | Roberts, Graham | Neto, Herberto Jose Chong | Wandalsen, Gustavo Falbo | Bianca, Ana Carolina Dela | Aranda, Carolina | Rosário, Nelson Augusto | Solé, Dirceu | Mallol, Javier | Marcos, Luis García | Banic, Ivana | Rijavec, Matija | Plavec, Davor | Korosec, Peter | Turkalj, Mirjana | Bozicevic, Alen | De Mieri, Maria | Hamburger, Matthias | Holley, Simone | Morris, Ruth | Mitchell, Frances | Knibb, Rebecca | Latter, Susan | Liossi, Christina | Hassan, Mostafa M. M. | Barman, Malin | Sandin, Anna | Posa, Daniela | Perna, Serena | Hoffmann, Ute | Chen, Kuan-Wei | Resch, Yvonne | Vrtala, Susanne | Valenta, Rudolf | Matricardi, Paolo Maria | Tsilochristou, Olympia | Rohrbach, Alexander | Cappella, Antonio | Hofmaier, Stephanie | Hatzler, Laura | D’Amelio, Raffaele | Björkander, Sophia | Johansson, Maria A. | Lasaviciute, Gintare | Sverremark-Ekström, Eva | Rüschendorf, Franz | Strachan, David P. | Spycher, Ben D. | Baurecht, Hansjörg | Margaritte-Jeannin, Patricia | Sääf, Annika | Kerkhof, Marjan | Ege, Markus | Baltic, Svetlana | Matheson, Melanie C. | Li, Jin | Michel, Sven | Ang, Wei Q. | McArdle, Wendy | Arnold, Andreas | Homuth, Georg | Demenais, Florence | Bouzigon, Emmanuelle | Söderhäll, Cilla | de Jongste, Johan C. | Postma, Dirkje S. | Braun-Fahrländer, Charlotte | Horak, Elisabeth | Ogorodova, Ludmila M. | Puzyrev, Valery P. | Bragina, Elena Yu | Hudson, Thomas J. | Morin, Charles | Duffy, David L. | Marks, Guy B. | Robertson, Colin F. | Montgomery, Grant W. | Musk, Bill | Thompson, Philip J. | Martin, Nicholas G. | James, Alan | Sleiman, Patrick | Toskala, Elina | Rodriguez, Elke | Fölster-Holst, Regina | Franke, Andre | Lieb, Wolfgang | Gieger, Christian | Heinzmann, Andrea | Rietschel, Ernst | Cichon, Sven | Nöthen, Markus M. | Pennell, Craig E. | Sly, Peter D. | Schmidt, Carsten O. | Schneider, Valentin | Heinig, Matthias | Holt, Patrick G. | Kabesch, Michael | Weidinger, Stefan | Hakonarson, Hakon | Ferreira, Manuel AR | Laprise, Catherine | Freidin, Maxim B | Genuneit, Jon | Koppelman, Gerard H | Melén, Erik | Dizier, Marie-Hélène | John Henderson, A. | Lee, Young Ae | González-Delgado, Purificacion | Caparrós, Esther | Clemente, Fernando | Cueva, Begoña | Moreno, Victoria M. | Carretero, Jose Luis | Fernández, Javier | Swan, Kate | Gopi, Mudiyur | Smith, Tim | Ramesh, Edara | Sadasivam, Arun | Arêde, Cristina | Borrego, Luís Miguel | Pires, Graça | Santa-Marta, Cristina | Brand, Stephanie | Stein, Karina | Heine, Holger | Kauth, Marion | Rolfsjord, Leif Bjarte | Bakkeheim, Egil | Skjerven, Håvard Ove | Carlsen, Kai-Håkon | Hunderi, Jon Olav | Berents, Teresa Løvold | Mowinckel, Petter | Lødrup Carlsen, Karin C. | Munzel, Ullrich | Berger, William | Valiente, Román | Vozmediano, Valvanera | Lukas, John C. | Rodríguez, Mónica | Guarnaccia, Sebastiano | Vitale, Luigi | Pluda, Ada | D’Agata, Emanuele | Colombo, Denise | Felici, Stefano | Gretter, Valeria | Facchetti, Susanna | Pecorelli, Gaia | Quecchia, Cristina | Guibas, George | Spandou, Evangelia | Megremis, Spyridon | West, Peter | Papadopoulos, Nikolaos | Rufo, João Cavaleiro | Madureira, Joana | Paciência, Inês | Aguiar, Lívia | Padrão, Patrícia | Pinto, Mariana | Delgado, Luís | Moreira, Pedro | Teixeira, João Paulo | Fernandes, Eduardo Oliveira | Moreira, André | Dominguez, Adriana Izquierdo | Valero, Antonio | Mullol, Joaquim | Del Cuvillo, Alfonso | Montoro, Javier | Jauregui, Ignacio | Bartra, Joan | Davila, Ignacio | Ferrer, Marta | Sastre, Joaquin | Martins, Catarina | Lima, Jorge | Leandro, Maria José | Nunes, Glória | Branco, Jorge Cunha | Trindade, Hélder | Borrego, Luis Miguel | Conkar, Secil | Kilic, Mehtap | Aygun, Canan | Sancak, Recep | Tagalaki, Eleni | Banos, Lambros | Vlachou, Anna | Giannoula, Fotini | Pavlakou, Marina | Kryoni, Maria | Makris, Kostas | Lazova, Snezhina | Petrova, Guergana | Miteva, Dimitrinka | Perenovska, Penka | Klyucharova, Aliya | Skorohodkina, Olesya | Koumaki, Dimitra | Manousaki, Alkisti | Agrapidi, Maria | Iatridou, Lida | Eruk, Omima | Myridakis, Konstantinos | Manousakis, Emmanouil | Koumaki, Vasiliki | Dimou, Maria | Ingemansson, Maria | Hedlin, Gunilla | Pastor, Nitida | de Boissieu, Delphine | Vanderhoof, Jon | Moore, Nancy | Maditz, Kaitlin | Mehdi, Adeli | Elhassan, Shaza | Beck, Carolin | Al-Hammadi, Ahmed | Maris, Ioana | O’Sullivan, Ronan | Hourihane, Jonathan | Raptis, George | DunnGalvin, Audrey | Greenhawt, Matthew | Venter, Carina | O’Regan, Evelyn | Cronin, Duncan | O’Reilly, Anna | Abdelaziz, Foued | Khelifi-Touhami, Dounia | Selim, Nihad | Khelifi-Touhami, Tahar | Merida, Pablo | Plaza, Ana Mª | Castellanos, Juan Heber | Lozano, Jaime | Dominguez, Olga | Piquer, Monica | Jimenez, Rosa | Giner, Mª Teresa | Kakleas, Konstantinos | Joishy, Manohar | Maskele, Wendmu | Jenkins, Huw R. | Escarrer, Mercedes | Madroñero, Agustín | Guerra, Maria Teresa | Julia, Juan Carlos | Cerda, Juan Carlos | Contreras, Javier | Tauler, Eulalia | Vidorreta, Maria Jesus | Rojo, Ana | Del Valle, Silvia | Flynn, Niamh | Foley, Gary | Harmon, Carol | Fitzsimons, John | Baynova, Krasimira | Del Robledo, Ávila Maria | Marina, Labella | Cortes, Aaron | Sciaraffia, Alicia | Castillo, Angela | Juel-Berg, Nanna | Hansen, Kirsten Skamstrup | Poulsen, Lars Kærgaard | Lazar, Adina | Aguiar, Rita | Lopes, Anabela | Paes, Maria J. | Santos, Amélia S. | Pereira-Barbosa, M. A. | Eke Gungor, Hatice | Uytun, Salih | Sahiner, Umit Murat | Altuner Torun, Yasemin | Zivanovic, Mirjana | Atanasković-Marković, Marina | Vesel, Tina | Nahtigal, Mihaela | Obermayer-Temlin, Andreja | Križnik, Eva Šoster | Maslar, Mirjana | Bizjak, Ruben | Tomšič-Matic, Marjeta | Posega-Devetak, Sonja | Skerbinjek-Kavalar, Maja | Predalič, Mateja | Avčin, Tadej | Pouessel, Guillaume | Beaudouin, Etienne | Moneret-Vautrin, Anne M. | Deschildre, Antoine | Viñas, Marta | Borja, Bartolomé | Hernández, Nora | Castillo, Mª José | Izquierdo, Adriana | Ibero, Marcel | Kocabas, Can Naci | Heming, Camille | Garrett, Emily | Blackstock, Adam | Chodhari, Rahul | Belohlavkova, Simona | Kopelentova, Eliska | Visek, Petr | Setinova, Ivana | Svarcova, Ivana | Sjölander, Sigrid | Nilsson, Nora | Berthold, Malin | Ekoff, Helena | Borres, Magnus | Nilsson, Caroline | González Domínguez, Loreto | Muñoz Archidona, Cristina | Moreira Jorge, Ana | Quevedo Teruel, Sergio | Bracamonte Bermejo, Teresa | Castillo Fernández, Miriam | Pineda de la Losa, Fernando | Echeverría Zudaire, Luis Ángel | Vrani, Olga | Mavroudi, Antigone | Fotoulaki, Maria | Emporiadou, Maria | Spiroglou, Kleomenis | Xinias, Ioannis | Sadreddini, Helyeh A. | Warnes, Mia | Traves, Donna | Kostić, Gordana | Filipovic, Đorđe | Sittisomwong, Sawapon | Sittisomwong, Siripong | Podolec, Zygmunt | Hartel, Marcin | Panek, Daria | Podolec-Rubiś, Magdalena | Banasik, Tomasz | Abbasi, Elham | Moghtaderi, Mozhgan | Sanneerappa, Phani | Deliu, Alina | Kutty, Moosa | Ramesh, Nagabathula | Sherkat, Roya | Sabri, Mohammad Reza | Dehghan, Bahar | Bigdelian, Hamid | Raeesi, Nahid | Afshar, Mino | Rahimi, Hamid | Klein, Christoph | Al-Jebouri, Mohemid | Svitich, Oxana A. | Zubacheva, Daria O. | Potemkin, Dmitrii A. | Gankovskaya, Ludmila V. | Zverev, Vitalii V. | OB Doyle, Elaine | Gallagher, Paul | Dewlett, Sherine | Man, Kin | Pocock, James | Gerrardhughes, Anna | Wasilewska, Jolanta | Kaczmarski, Maciej | Lebensztejn, Dariusz | Thuraisingham, Chandramani | Sinniah, Davendralingam | Chen, Yue | Mei, Xiaomei | Ozdogan, Sebnem | Karadeniz, Pinar | Ayyildiz-Emecen, Durdugul | Oncul, Ummuhan | Sari, Gizem | Cavdar, Sabanur | Farzan, Niloufar | Vijverberg, Susanne J. | Palmer, Colin J. | Tantisira, Kelan G. | Maitland-van der Zee, Anke-Hilse | Yavuzyilmaz, Fatma | Urganci, Nafiye | Usta, Merve | Hoxha, Mehmet | Basho, Maksim | Wandalsen, Gustavo F. | Monteiro, Fernanda | Lame, Blerta | Mesonjesi, Eris | Sherri, Arjeta | Ibranji, Alkerta | Gjati, Laert | Loloci, Gjustina | Bardhi, Ardii | Moghtaderi, Behnam | Farjadian, Shirin | Eghtedari, Dorna | Olaya, Manuela | Del Mar Vasquez, Laura | Ramirez, Luis Fernando | Serrano, Carlos Daniel | Usta Guc, Belgin | Asilsoy, Suna | Ozer, Fulya | Shopova, Sylvia | Papochieva, Vera | Loekmanwidjaja, Jessica | Mallozi, Márcia | Ratner, Paul | Soteres, Daniel | Novák, Zoltán | Yáñez, Anahí | Ildikó, Kiss | Kuna, Piotr | Tortajada, Miguel | Valiente, Román | Feuerhahn, Julia | Blome, Christine | Hadler, Meike | Karagiannis, Efstrathios | Langenbruch, Anna | Augustin, Matthias | Roux, Michel | Kakudo, Shinji | Zeldin, Robert K. | Sokolova, Anna | Silva, Tiago Milheiro | Zivanovic, Snezana S. | Cvetkovic, Vesna | Nikolic, Ivana | Zivanovic, Sonja J. | Saranac, Ljiljana | Nesterenko, Zoia | Radic, Snezana | Milenkovic, Branislava | Smiljanic, Spomenka | Micic-Stanijevic, Milka | Calovic, Olivera | Hofbauer, Anne Marie Bro | Agertoft, Lone | Everson, Lucy | Kearney, Jessica | Coppel, Jonny | Braithwaite, Simon | Christiansen, Elisabeth S. | Kjaer, Henrik Fomsgaard | Eller, Esben | Mørtz, Charlotte G. | Halken, Susanne | Román India, Cristina | Jiménez Jiménez, Juana | Echeverría Zudaire, Luis | O’Connor, Cathal | Kanti, Varvara | Lünnemann, Lena | Malise, Günther | Ludriksone, Laine | Stroux, Andrea | Henrich, Wolfgang | Abu-Dakn, Michael | Blume-Peytavi, Ulrike | Garcia Bartels, Natalie | Schario, Marianne | Stanley, Thorsten | Brandenbarg, Nicolien | Boardman, Alia | McGreevy, Gary | Rodger, Emily | Knight, Katherine | Taylor, Trisha | Scanlan, Gemma | Christoph, Grüber | van Stuivenberg, Margriet | Mosca, Fabio | Moro, Guido | Chirico, Gaetano | Braegger, Christian P. | Riedler, Joseph | Yavuz, Yalcin | Boehm, Günther | Arasi, Stefania | Crisafulli, Giuseppe | Caminiti, Lucia | Porcaro, Federica | Pajno, Giovanni Battista | Tanaka, Akane | Togawa, Yaei | Oida, Kumiko | Kambe, Naotomo | Arkwright, Peter | Amagai, Yosuke | Shimojo, Naoki | Sato, Yasunori | Mochizuki, Hiroyuki | Jang, Hyosun | Ishizaka, Saori | Matsuda, Hiroshi | Barlianto, Wisnu | Olivianto, Ery | Chandra Kusuma, H. M. S. | Mollica, Mariapia | Trinchese, Giovanna | Alfano, Elena | Amato, Francesco | Pirozzi, Claudio | Calignano, Antonio | Meli, Rosaria | Rossberg, Siri | Gerhold, Kerstin | Zimmermann, Kurt | Zaino, Mohammad | Geske, Thomas | Hamelmann, Eckard | Bogovic, Sarah | van den Berg, Jochem | Janssen, Chantal | Claver, Angela | Martin-Muñoz, Mª Flor | Martorell, C. | Belver, M. T. | Alonso Lebrero, E. | Zapatero, L. | Fuentes, V. | Piqué, M. | Plaza, A. | Muñoz, C. | Blasco, Cristina | Villa, B. | Gómez, C. | Nevot, S. | García, J. M. | Echeverria, L. | DeWitt, Brenda | Holloway, Judith | Hodge, Donald | Ludman, Sian | Jafari-Mamaghani, Merhdad | Ebling, Rosemary | Fox, Adam T. | Lack, Gideon | Lovén Björkman, Sofia | Ballardini, Natalia | Basu, Supriyo | Hallet, Jenny | Srinivas, Jyothi | Stringer, Hazel | Jay, Nicola | Fonseca, Paula | Vieira, Clara | Mastrorilli, Carla | Caffarelli, Carlo | Asero, Riccardo | Tripodi, Salvatore | Dondi, Arianna | Ricci, Gianpaolo | Povesi Dascola, Carlotta | Calamelli, Elisabetta | Cipriani, Francesca | Di Rienzo Businco, Andrea | Bianchi, Annamaria | Candelotti, Paolo | Frediani, Tullio | Verga, Carmen | Korovessi, Paraskevi | Tiliakou, Skevi | Tavoulari, Evaggelia | Moraiti, Kalliopi-Maria | Tee, Wan Jean | Deiratany, Samir | Seedhoo, Raymond | McNamara, Roisin | Okafor, Ike | Khaleva, Ekaterina | Novic, Gennady | Bychkova, Natalia | Abd Al-Aziz, Amany | Fatouh, Amany | Motawie, Ayat | Bostany, Eman El | Ibrahim, Amr | Andonova, Sylvia | Savov, Alexey | Zoto, Maria | Kyriakakou, Marialena | Vassilopoulou, Mariza | Balaska, Athina | Kostaridou, Stavroula | Wartna, Jorien | Bohnen, Arthur M. | Elshout, Gijs | Pols, David H. J. | Bindels, Patrick J. E. | Seys, Sven F. | Dilissen, Ellen | Van der Eycken, Sarah | Schelpe, An-Sofie | Marijsse, Gudrun | Troosters, Thierry | Vanbelle, Vincent | Aertgeerts, Sven | Ceuppens, Jan L. | Dupont, Lieven J. | Peers, Koen | Bullens, Dominique M. | Lokas, Sandra Bulat | Zivkovic, Jelena | Nogalo, Boro | Kobal, Iva Mrkic | Oliveira, Georgeta | Pike, Katharine | Melo, Alda | Amélia, Tomás | Cidrais Rodrigues, José Carlos | Serrano, Cristina | Lopes dos Santos, José Manuel | Lopes, Carla | Schauer, Uwe | Bergmann, Karl-Christian | Moral, Luis | Toral, Teresa | Marco, Nuria | Avilés, Beléns García | Fuentes, Mª Jesús | Garde, Jesús | Montahud, Cristina | Perona, Javier | Forniés, Mª José | Arroabarren, Esozia | Anda, Marta | Sanz, Maria Luisa | Lizaso, Maria Teresa | Arregui, Candida | May, Sara | Hartz, Martha | Joshi, Avni | Park, Miguel A. | Posega Devetak, Sonja | Koren Jeverica, Anja | Castro, Leonor | Gouveia, Carolina | Marques, Ana Carvalho | Cabral, Antonio Jorge | Amaral, Luis | Carolino, Fabrícia | Castro, Eunice | Passos, Madalena | Cernadas, Josefina R. | Amaral, Luís | Dias de Castro, Eunice | Pineda, Fernando | Gomes, Armanda | Brough, Helen | Röhmel, Jobst | Schwarz, Carsten | Mehl, Anne | Stock, Philippe | Staab, Doris | Seib, Christine | Critchlow, Anita | Barber, Alyson | Delavalle, Belen | Garriga, Teresa | Vilá, Blanca | Astolfi, Annalisa | Di Chiara, Costanza | Neri, Iria | Patrizi, Annalisa | Neskorodova, Katerina | Kudryavtseva, Asya | Alvarez, Jorge | Palacios, Miriam | Martinez-Merino, Marta | Vaquero, Ibone
Clinical and Translational Allergy  2016;6(Suppl 1):1-60.
Table of contents
WORKSHOP 4: Challenging clinical scenarios (CS01–CS06)
CS01 Bullous lesions in two children: solitary mastocytoma
S. Tolga Yavuz, Ozan Koc, Ali Gungor, Faysal Gok
CS02 Multi-System Allergy (MSA) of cystic fibrosis: our institutional experience
Jessica Hawley, Christopher O’Brien, Matthew Thomas, Malcolm Brodlie, Louise Michaelis
CS03 Cold urticaria in pediatric age: an invisible cause for severe reactions
Inês Mota, Ângela Gaspar, Susana Piedade, Graça Sampaio, José Geraldo Dias, Miguel Paiva, Mário Morais-Almeida
CS04 Angioedema with C1 inhibitor deficiency in a girl: a challenge diagnosis
Cristina Madureira, Tânia Lopes, Susana Lopes, Filipa Almeida, Alexandra Sequeira, Fernanda Carvalho, José Oliveira
CS05 A child with unusual multiple organ allergy disease: what is the primer?
Fabienne Gay-Crosier
CS06 A case of uncontrolled asthma in a 6-year-old patient
Ioana-Valentina Nenciu, Andreia Florina Nita, Alexandru Ulmeanu, Dumitru Oraseanu, Carmen Zapucioiu
ORAL ABSTRACT SESSION 1: Food allergy (OP01–OP06)
OP01 Food protein-induced enterocolitis syndrome: oral food challenge outcomes for tolerance evaluation in a Pediatric Hospital
Adrianna Machinena, Olga Domínguez Sánchez, Montserrat Alvaro Lozano, Rosa Jimenez Feijoo, Jaime Lozano Blasco, Mònica Piquer Gibert, Mª Teresa Giner Muñoz, Marcia Dias da Costa, Ana Maria Plaza Martín
OP02 Characteristics of infants with food protein-induced enterocolitis syndrome and allergic proctocolitis
Ebru Arik Yilmaz, Özlem Cavkaytar, Betul Buyuktiryaki, Ozge Soyer, Cansin Sackesen
OP03 The clinical and immunological outcomes after consumption of baked egg by 1–5 year old egg allergic children: results of a randomised controlled trial
MerrynNetting, Adaweyah El-Merhibi, Michael Gold, PatrickQuinn, IrmeliPenttila, Maria Makrides
OP04 Oral immunotherapy for treatment of egg allergy using low allergenic, hydrolysed egg
Stavroula Giavi, Antonella Muraro, Roger Lauener, Annick Mercenier, Eugen Bersuch, Isabella M. Montagner, Maria Passioti, Nicolò Celegato, Selina Summermatter, Sophie Nutten, Tristan Bourdeau, Yvonne M. Vissers, Nikolaos G. Papadopoulos
OP05 Chemical modification of a peanut extract results in an increased safety profile while maintaining efficacy
Hanneke van der Kleij, Hans Warmenhoven, Ronald van Ree, Raymond Pieters, Dirk Jan Opstelten, Hans van Schijndel, Joost Smit
OP06 Administration of the yellow fever vaccine in egg allergic children
Roisin Fitzsimons, Victoria Timms, George Du Toit
ORAL ABSTRACT SESSION 2: Asthma (OP07–OP12)
OP07 Previous exacerbation is the most important risk factor for future exacerbations in school-age children with asthma
S. Tolga Yavuz, Guven Kaya, Mustafa Gulec, Mehmet Saldir, Osman Sener, Faysal Gok
OP08 Comparative study of degree of severity and laboratory changes between asthmatic children using different acupuncture modalities
Nagwa Hassan, Hala Shaaban, Hazem El-Hariri, Ahmed Kamel Inas E. Mahfouz
OP09 The concentration of exhaled carbon monoxide in asthmatic children with different controlled stadium
Papp Gabor, Biro Gabor, Kovacs Csaba
OP10 Effect of vitamin D3 supplementation during pregnancy on risk of persistent wheeze in the offspring: a randomised clinical trial
Bo Chawes, Klaus Bønnelykke, Jakob Stokholm, Lene Heickendorff, Susanne Brix, Morten Rasmussen, Hans Bisgaard
OP11 Lung function development in childhood
Henrik Wegener Hallas, Bo Chawes, Lambang Arianto, Hans Bisgaard
OP12 Is the effect of maternal and paternal asthma different in female and male children before puberty?
Maike Pincus, Thomas Keil, Andreas Reich, Ulrich Wahn, Susanne Lau, Linus Grabenhenrich
ORAL ABSTRACT SESSION 3: Epidemiology—genetics (OP13–OP18)
OP13 Lifestyle is associated with incidence and category of allergen sensitisation: the ALADDIN birth cohort
Sara Fagerstedt, Helena Marell Hesla, Emelie Johansson, Helen Rosenlund, Axel Mie, Annika Scheynius, Johan Alm
OP15 Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance
Jorge Esparza-Gordillo, Anja Matanovic, Ingo Marenholz, Anja Bauerfeind, Klaus Rohde, Katja Nemat, Min-Ae Lee-Kirsch, Magnus Nordenskjöld, Marten C. G. Winge, Thomas Keil, Renate Krüger, Susanne Lau, Kirsten Beyer, Birgit Kalb, Bodo Niggemann, Norbert Hübner, Heather J. Cordell, Maria Bradley, Young-Ae Lee
OP16 Allergic multimorbidity of asthma, rhinitis and eczema in the first 2 decades of the German MAS birth cohort
Thomas Keil, Hannah Gough, Linus Grabenhenrich, Dirk Schramm, Andreas Reich, John Beschorner, Antje Schuster, Carl-Peter Bauer, Johannes Forster, Fred Zepp, Young-Ae Lee, Renate Bergmann, Karl Bergmann, Ulrich Wahn, Susanne Lau
OP17 Childhood anaphylaxis: a growing concern
Filipe Benito Garcia, Inês Mota, Susana Piedade, Ângela Gaspar, Natacha Santos, Helena Pité, Mário Morais-Almeida
OP18 Indoor exposure to molds and dampness in infancy and its association to persistent atopic dermatitis in school age. Results from the Greek ISAAC II study
Athina Papadopoulou, Despina Mermiri, Elpida Xatziagorou, Ioannis Tsanakas, Stavroula Lampidi, Kostas Priftis
ORAL ABSTRACT SESSION 4: Pediatric rhinitis—immunotherapy (OP19–OP24)
OP19 Associations between residential greenness and childhood allergic rhinitis and aeroallergen sensitisation in seven birth cohorts
Elaine Fuertes, Iana Markevych, Gayan Bowatte, Olena Gruzieva, Ulrike Gehring, Allan Becker, Dietrich Berdel, Michael Brauer, Chris Carlsten, Barbara Hoffmann, Anita Kozyrskyj, Caroline Lodge, Göran Pershagen, Alet Wijga, Heinrich Joachim
OP20 Full symptom control in pediatric patients with allergic rhinitis and asthma: results of a 2-year sublingual allergen immunotherapy study
Zorica Zivkovic, Ivana Djuric-Filipovic, Jasmina Jocić-Stevanovic, Snežana Zivanovic
OP21 Nasal epithelium of different ages of atopic subjects present increased levels of oxidative stress and increased cell cytotoxicity upon rhinovirus infection
Styliani Taka, Dimitra Kokkinou, Aliki Papakonstantinou, Panagiota Stefanopoulou, Anastasia Georgountzou, Paraskevi Maggina, Sofia Stamataki, Vassiliki Papaevanggelou, Evangelos Andreakos, Nikolaos G. Papadopoulos
OP22 Cluster subcutaneous immunotherapy schedule: tolerability profile in children
Monica Piquer Gibert, Montserrat Alvaro Lozano, Jaime Lozano Blasco, Olga Domínguez Sánchez, Rosa Jiménez Feijoo, Marcia Dias da Costa, Mª Teresa Giner Muñoz, Adriana Machinena Spera, Ana Maria Plaza Martín
OP23 Rhinitis as a risk factor for asthma severity in 11-year old children: population-based cohort study
Matea Deliu, Danielle Belgrave, Angela Simpson, Adnan Custovic
OP24 The Global Lung Function Initiative equations in airway obstruction evaluation of asthmatic children
João Gaspar Marques, Pedro Carreiro-Martins, Joana Belo, Sara Serranho, Isabel Peralta, Nuno Neuparth, Paula Leiria-Pinto
POSTER DISCUSSION SESSION 1: Food allergy (PD01–PD05)
PD01 Allergen-specific humoral and cellular responses in children who fail egg oral immunotherapy due to allergic reactions
Marta Vazquez-Ortiz, Mariona Pascal, Ana Maria Plaza, Manel Juan
PD02 FoxP3 epigenetic features in children with cow milk allergy
Lorella Paparo, Rita Nocerino, Rosita Aitoro, Ilaria Langella, Antonio Amoroso, Alessia Amoroso, Carmen Di Scala, Roberto Berni Canani
PD04 Combined milk and egg allergy in early childhood: let them eat cake?
Santanu Maity, Giuseppina Rotiroti, Minal Gandhi
PD05 Introduction of complementary foods in relation to allergy and gut microbiota in farm and non-farm children
Karin Jonsson, Annika Ljung, Bill Hesselmar, Ingegerd Adlerbert, Hilde Brekke, Susanne Johansen, Agnes Wold, Ann-Sofie Sandberg
POSTER DISCUSSION SESSION 2: Asthma and wheeze (PD06–PD16)
PD06 The association between asthma and exhaled nitric oxide is influenced by genetics and sensitisation
Björn Nordlund, Cecilia Lundholm, Villhelmina Ullemar, Marianne van Hage, Anne Örtqvist, Catarina Almqvist
PD09 Prevalence patterns of infant wheeze across Europe
Anna Selby, Kate Grimshaw, Thomas Keil, Linus Grabenhenrich, Michael Clausen, Ruta Dubakiene, Alessandro Fiocchi, Marek Kowalski, Nikos Papadopoulos, Marta Reche, Sigurveig Sigurdardottir, Aline Sprikkleman, Paraskevi Xepapadaki, Clare Mills, Kirsten Beyer, Graham Roberts
PD10 Epidemiologic changes in recurrent wheezing infants
Herberto Jose Chong Neto, Gustavo Falbo Wandalsen, Ana Carolina Dela Bianca, Carolina Aranda, Nelson Augusto Rosário, Dirceu Solé, Javier Mallol, Luis García Marcos
PD13 A single nucleotide polymorphism in the GLCCI1 gene is associated with response to asthma treatment in children
IvanaBanic, Matija Rijavec, Davor Plavec, Peter Korosec, Mirjana Turkalj
PD14 Pollen induced asthma: Could small molecules in pollen exacerbate the protein-mediated allergic response?
Alen Bozicevic, Maria De Mieri, Matthias Hamburger
PD15 A qualitative study to understand how we can empower teenagers to better self-manage their asthma
Simone Holley, Ruth Morris, Frances Mitchell, Rebecca Knibb, Susan Latter, Christina Liossi, Graham Roberts
PD16 Polymorphism of endothelial nitric oxide synthase (eNOS) gene among Egyptian children with bronchial asthma
Mostafa M. M. Hassan
POSTER DISCUSSION SESSION 3: Mechanisms—Epidemiology (PD17–PD21)
PD17 Pregnancy outcomes in relation to development of allergy in a Swedish birth cohort
Malin Barman, Anna Sandin, Agnes Wold, Ann-Sofie Sandberg
PD18 Evolution of the IgE response to house dust mite molecules in childhood
Daniela Posa, Serena Perna, Carl-Peter Bauer, Ute Hoffmann, Johannes Forster, Fred Zepp, Antje Schuster, Ulrich Wahn, Thomas Keil, Susanne Lau, Kuan-Wei Chen, Yvonne Resch, Susanne Vrtala, Rudolf Valenta, Paolo Maria Matricardi
PD19 Antibody recognition of nsLTP-molecules as antigens but not as allergens in the German-MAS birth cohort
Olympia Tsilochristou, Alexander Rohrbach, Antonio Cappella, Stephanie Hofmaier, Laura Hatzler, Carl-Peter Bauer, Ute Hoffmann, Johannes Forster, Fred Zepp, Antje Schuster, RaffaeleD’Amelio, Ulrich Wahn, Thomas Keil, Susanne Lau, Paolo Maria Matricardi
PD20 Early life colonization with Lactobacilli and Staphylococcus aureus oppositely associates with the maturation and activation of FOXP3+ CD4 T-cells
Sophia Björkander, Maria A. Johansson, Gintare Lasaviciute, Eva Sverremark-Ekström
PD21 Genome-wide meta-analysis identifies 7 susceptibility loci involved in the atopic march
Ingo Marenholz, Jorge Esparza-Gordillo, Franz Rüschendorf, Anja Bauerfeind, David P. Strachan, Ben D. Spycher, Hansjörg Baurecht, Patricia Margaritte-Jeannin, Annika Sääf, Marjan Kerkhof, Markus Ege, Svetlana Baltic, Melanie C Matheson, Jin Li, Sven Michel, Wei Q. Ang, Wendy McArdle, Andreas Arnold, Georg Homuth, Florence Demenais, Emmanuelle Bouzigon, Cilla Söderhäll, Göran Pershagen, Johan C. de Jongste, Dirkje S Postma, Charlotte Braun-Fahrländer, Elisabeth Horak, Ludmila M. Ogorodova, Valery P. Puzyrev, Elena Yu Bragina, Thomas J Hudson, Charles Morin, David L Duffy, Guy B Marks, Colin F Robertson, Grant W Montgomery, Bill Musk, Philip J Thompson, Nicholas G. Martin, Alan James, Patrick Sleiman, Elina Toskala, Elke Rodriguez, Regina Fölster-Holst, Andre Franke, Wolfgang Lieb, Christian Gieger, Andrea Heinzmann, Ernst Rietschel, Thomas Keil, Sven Cichon, Markus M Nöthen, Craig E Pennell, Peter D Sly, Carsten O Schmidt, Anja Matanovic, Valentin Schneider, Matthias Heinig, Norbert Hübner, Patrick G. Holt, Susanne Lau, Michael Kabesch, Stefan Weidinger, Hakon Hakonarson, Manuel AR Ferreira, Catherine Laprise, Maxim B. Freidin, Jon Genuneit, Gerard H Koppelman, Erik Melén, Marie-Hélène Dizier, A. John Henderson, Young Ae Lee
POSTER DISCUSSION SESSION 4: Food allergy—Anaphylaxis (PD22–PD26)
PD22 Atopy patch test in food protein induced enterocolitis caused by solid food
Purificacion González-Delgado, Esther Caparrós, Fernando Clemente, Begoña Cueva, Victoria M. Moreno, Jose Luis Carretero, Javier Fernández
PD23 Watermelon allergy: a novel presentation
Kate Swan, George Du Toit
PD24 A pilot study evaluating the usefulness of a guideline template for managing milk allergy in primary care
Mudiyur Gopi, Tim Smith, Edara Ramesh, Arun Sadasivam
PD26 Efficacy and safety of cow’s milk oral immunotherapy protocol
Inês Mota, Filipe Benito Garcia, Susana Piedade, Angela Gaspar, Graça Sampaio, Cristina Arêde, Luís Miguel Borrego, Graça Pires, Cristina Santa-Marta, Mário Morais-Almeida
POSTER DISCUSSION SESSION 5: Prevention and treatment—Allergy (PD27–PD36)
PD27 Allergy-protection by the lactic acid bacterium Lactococcus lactis G121: mode-of-action as revealed in a murine model of experimental allergy
Stephanie Brand, Karina Stein, Holger Heine, Marion Kauth
PD29 The relationship between quality of life and morning salivary cortisol after acute bronchiolitis in infancy
Leif Bjarte Rolfsjord, Egil Bakkeheim, Johan Alm, Håvard Ove Skjerven, Kai-Håkon Carlsen, Jon Olav Hunderi, Teresa Løvold Berents, Petter Mowinckel, Karin C. Lødrup Carlsen
PD30 Randomised trial of the efficacy of MP29-02* compared with fluticasone propionate nasal spray in children aged ≥6 years to <12 years with allergic rhinitis
Ulrich Wahn, Ullrich Munzel, William Berger
PD31 10 mg of oral bilastine in 2 to 11 years old children has similar exposure to the adult therapeutic dose (20 mg)
Ulrich Wahn, Román Valiente, Valvanera Vozmediano, John C. Lukas, Mónica Rodríguez
PD33 Daily symptoms, nocturnal symptoms, activity limitations and reliever therapies during the three steps of IOEASMA programme: a comparison
Sebastiano Guarnaccia, Luigi Vitale, Ada Pluda, Emanuele D’Agata, Denise Colombo, Stefano Felici, Valeria Gretter, Susanna Facchetti, Gaia Pecorelli, Cristina Quecchia
PD34 Sensitisation to an inert aeroallergen in weaning rats and longstanding disease, in a sensitisation-tolerant and easily tolerisable rodent strain
George Guibas, Evangelia Spandou, Spyridon Megremis, Peter West, Nikolaos Papadopoulos
PD35 Bacterial and fungi exposure in school and allergic sensitisation in children
João Cavaleiro Rufo, Joana Madureira, Inês Paciência, Lívia Aguiar, Patrícia Padrão, Mariana Pinto, Luís Delgado, Pedro Moreira, João Paulo Teixeira, Eduardo Oliveira Fernandes, André Moreira
PD36 Comparative study of allergy rhinitis between two populations: children vs. adults
Adriana Izquierdo Dominguez, Antonio Valero, Joaquim Mullol, Alfonso Del Cuvillo, Javier Montoro, Ignacio Jauregui, Joan Bartra, Ignacio Davila, Marta Ferrer, Joaquin Sastre
POSTER VIEWING SESSION 1: Inflammation—Genetics—Immunology—Dermatology (PP01–PP09)
PP01 Immune profile in late pregnancy: immunological markers in atopic asthmaticwomen as risk factors for atopy in the progeny
Catarina Martins, Jorge Lima, Maria José Leandro, Glória Nunes, Jorge Cunha Branco, Hélder Trindade, Luis Miguel Borrego
PP02 The impact of neonatal sepsis on development of allergic diseases
Secil Conkar, Mehtap Kilic, Canan Aygun, Recep Sancak
PP03 Clinical overview of selective IgE deficiency in childhood
Athina Papadopoulou, Eleni Tagalaki, Lambros Banos, Anna Vlachou, Fotini Giannoula, Despina Mermiri
PP04 Inverse relationship between serum 25(ΟΗ) vitamin D3 and total IgE in children and adolescence
Athina Papadopoulou, Stavroula Lampidi, Marina Pavlakou, Maria Kryoni, Kostas Makris
PP05
PP06
PP07 Asthma control questionnaire and specific IgE in children
Snezhina Lazova, Guergana Petrova, Dimitrinka Miteva, Penka Perenovska
PP08 Features of chronic urticaria of adolescents
Aliya Klyucharova, Olesya Skorohodkina
PP09 Cutaneous mastocytosis in children: a clinical analysis of 8 cases in Greece
Dimitra Koumaki, Alkisti Manousaki, Maria Agrapidi, Lida Iatridou, Omima Eruk, Konstantinos Myridakis, Emmanouil Manousakis, Vasiliki Koumaki
POSTER VIEWING SESSION 2: Food allergy—Anaphylaxis (PP10–PP47)
PP10 Prognostic factors in egg allergy
Maria Dimou, Maria Ingemansson, Gunilla Hedlin
PP11 Evaluation of the efficacy of an amino acid-based formula in infants who are intolerant to extensively hydrolysed protein formula
Nitida Pastor, Delphine de Boissieu, Jon Vanderhoof, Nancy Moore, Kaitlin Maditz
PP12 Anaphylaxis and epinephrine auto-injector use: a survey of pediatric trainees
Adeli Mehdi, Shaza Elhassan, Carolin Beck, Ahmed Al-Hammadi
PP13 Anaphylaxis in children: acute management in the Emergency Department
Ioana Maris, Ronan O’Sullivan, Jonathan Hourihane,
PP14 Understanding Cumbrian schools preparedness in managing children at risk of anaphylaxis in order to provide training and support which will create healthy and safe environments for children with allergies
George Raptis, Louise Michaelis
PP15 A new valid and reliable parent and child questionnaire to measure the impact of food protein enterocolitis syndrome on children: the FPIES Quality of Life Questionnaire (FPIESQL), Parent and Child Short Form
Audrey DunnGalvin, Matthew Greenhawt, Carina Venter, Jonathan Hourihane
PP16 An in-depth case study investigation of the experiences of teenagers and young adults in growing up and living with food allergy with emphasis on coping, management and risk, support, and social and self-identity
Evelyn O’Regan, Duncan Cronin, Jonathan Hourihane, Anna O’Reilly, Audrey DunnGalvin
PP17 Cow’s milk protein allergy in Constantine. A retrospective study of 62 cases between 1996 and 2013
Foued Abdelaziz, Dounia Khelifi-Touhami, Nihad Selim, Tahar Khelifi-Touhami
PP18
PP19 Cow’s milk and egg oral immunotherapy in children older than 5 years
Pablo Merida, Ana Mª Plaza, Juan Heber Castellanos, Adrianna Machinena, Montserrat Alvaro Lozano, Jaime Lozano, Olga Dominguez, Monica Piquer, Rosa Jimenez, Mª Teresa Giner
PP20 Professionals’ awareness of management of Cow’s Milk Protein Allergy (CMPA) in North Wales Hospitals
Konstantinos Kakleas, Manohar Joishy, Wendmu Maskele, Huw R. Jenkins
PP21
PP22 Anaphylaxis: the great unknown for teachers. Presentation of a protocol for schools
Mercedes Escarrer, Agustín Madroñero, Maria Teresa Guerra, Juan Carlos Julia, Juan Carlos Cerda, Javier Contreras, Eulalia Tauler, Maria Jesus Vidorreta, Ana Rojo, Silvia Del Valle
PP23 Challenges facing children with food allergies and their parents in out of school activity sectors
Niamh Flynn
PP24 A review of food challenges at a Regional Irish Centre
Gary Foley, Carol Harmon, John Fitzsimons
PP25 The use of epinephrine in infants with anaphylaxis
Krasimira Baynova, Ávila Maria Del Robledo, Labella Marina
PP26
PP27
PP28 Mother’s psychological state predicts the expression of symptoms in food allergic children
Aaron Cortes, Alicia Sciaraffia, Angela Castillo
PP29 The correlation between sIgE towards tree nuts and birch pollen in a Danish Pediatric Allergy Clinic
Nanna Juel-Berg, Kirsten Skamstrup Hansen, Lars Kærgaard Poulsen
PP30 Food allergy in children: evaluation of parents’ use of online social media
Andreia Florina Nita, Ioana Valentina Nenciu, Adina Lazar, Dumitru Oraseanu
PP31 The impact of food allergy on quality of life: FAQLQ questionnaire
Rita Aguiar, Anabela Lopes, Maria J. Paes, Amélia S. Santos, M. A. Pereira-Barbosa
PP32 An unexpected cause of anaphylaxis: potato
Hatice Eke Gungor, Salih Uytun, Umit Murat Sahiner, Yasemin Altuner Torun
PP33 Is it clinical phenotype of allergic diseases determined by sensitisation to food?
Mirjana Zivanovic, Marina Atanasković-Marković
PP34
PP35 Prescribing adrenaline auto-injectors in children in 2014: the data from regional pediatricians
Tina Vesel, Mihaela Nahtigal, Andreja Obermayer-Temlin, Eva Šoster Križnik, Mirjana Maslar, Ruben Bizjak, Marjeta Tomšič-Matic, Sonja Posega-Devetak, Maja Skerbinjek-Kavalar, Mateja Predalič, Tadej Avčin
PP36 Who should have an adrenaline autoinjector? Adherence to the European and French guidelines among 121 allergists from the Allergy Vigilance Network
Guillaume Pouessel, Etienne Beaudouin, Anne M. Moneret-Vautrin, Antoine Deschildre, Allergy Vigilance Network
PP37 Anaphylaxis by Anacardium Occidentale
Marta Viñas, Bartolomé Borja, Nora Hernández, Mª José Castillo, Adriana Izquierdo, Marcel Ibero
PP38 Anaphylaxis with honey in a child
S. Tolga Yavuz, Ali Gungor, Betul Buyuktiryaki, Ozan Koc, Can Naci Kocabas, Faysal Gok
PP39 Evaluation of courses adopted to children on prevention, recognition and management of anaphylaxis
Tina Vesel, Mihaela Nahtigal
PP40 Symptomatic dust mites and shrimp allergy: three pediatric case reports
Filipa Almeida, Susana Lopes, Cristina Madureira, Tânia Lopes, Fernanda Carvalho
PP41 Poor identification rates of nuts by high risk individuals: a call for improved education and support for families
Camille Heming, Emily Garrett, Adam Blackstock, Santanu Maity, Rahul Chodhari
PP42 DAFALL: database of food allergies in the Czech Republic
Simona Belohlavkova, Eliska Kopelentova, Petr Visek, Ivana Setinova, Ivana Svarcova
PP43 Serological cross-reactivity between grass and wheat is not only caused by profilins and CCDs
Sigrid Sjölander, Nora Nilsson, Malin Berthold, Helena Ekoff, Gunilla Hedlin, Magnus Borres, Caroline Nilsson
PP44 Oil body associated proteins in children with nuts allergy. Allergens to consider in IgE-mediated nuts allergy
Loreto González Domínguez, Cristina Muñoz Archidona, Ana Moreira Jorge, Sergio Quevedo Teruel, Teresa Bracamonte Bermejo, Miriam Castillo Fernández, Fernando Pineda de la Losa, Luis Ángel Echeverría Zudaire
PP45
PP46 Protective effect of helicobacter pylori infection against food allergy in children
Olga Vrani, Antigone Mavroudi, Maria Fotoulaki, Maria Emporiadou, Kleomenis Spiroglou, Ioannis Xinias
PP47 Anaphylaxis pathway: A road tryp-tase to success?
Helyeh A. Sadreddini, Mia Warnes, Donna Traves
POSTER VIEWING SESSION 3: Miscellaneous (PP48–PP58)
PP48 Surveillance study on safety of SLIT in pediatric population
Ivana Djuric-Filipovic, Zorica Zivkovic, Snežana Zivanovic, Gordana Kostić, Đorđe Filipovic
PP49 Efficacy and safety of mixed mite subcutaneous immunotherapy among allergic rhinitis patients in the Northeastern Thailand
Sawapon Sittisomwong, Siripong Sittisomwong
PP50 Effect of inhaled beclomethasone or placebo on brain stem activity in a patient chronically treated with steroids: preliminary report
Zygmunt Podolec, Marcin Hartel, Daria Panek, Magdalena Podolec-Rubiś, Tomasz Banasik
PP51 Sensitisation to aeroallergens in patients with allergic rhinitis, asthma and atopic dermatitis in Shiraz, Southwestern Iran
Elham Abbasi, Mozhgan Moghtaderi
PP52 Referring a child for allergy test: how appropriate are we?
Phani Sanneerappa, Alina Deliu, Moosa Kutty, Nagabathula Ramesh
PP53 EBV lymphoproliferative disease and cardiac lymphoma in a STK4 deficient patient
Roya Sherkat, Mohammad Reza Sabri, Bahar Dehghan, Hamid Bigdelian, Nahid Raeesi, Mino Afshar, Hamid Rahimi, Christoph Klein
PP54 A case study: the effect of massive honeybees attack on various body parameters atopic girl including allergy
Mohemid Al-Jebouri
PP55 The role of TLR9, NLRP3 and proIL-1β in activation of antiviral innate immunity
Oxana A. Svitich, Daria O. Zubacheva, Dmitrii A. Potemkin, Ludmila V. Gankovskaya, Vitalii V. Zverev
PP56 Overnight pulse oximetry, as a screening tool to diagnose obstructive sleep apnoea. How effective is it?
Phani Sanneerappa, Elaine OB Doyle, Paul Gallagher, Nagabathula Ramesh
PP57 The presentation and management of acute urticaria and allergic reactions in children in a multi-ethnic, inner city Emergency Department (ED)
Sherine Dewlett, Kin Man, Minal Gandhi, James Pocock, Anna Gerrardhughes
PP58 Food allergens responsible for delayed-type sensitisation in atopy patch test in children diagnosed with autism spectrum disorder
Jolanta Wasilewska, Maciej Kaczmarski, Dariusz Lebensztejn
POSTER VIEWING SESSION 4: Asthma—Rhinitis (PP59–PP87)
PP59 Systematic review of incense as a trigger factor for asthma
Chandramani Thuraisingham, Davendralingam Sinniah
PP60 Increased risks of mood and anxiety disorders in children with asthma
Yue Chen, Xiaomei Mei
PP61
PP62 Asthma Control Test (ACT) and Pediatric Asthma Quality of Life Questionnaire (PAQLQ) association in children
Sebnem Ozdogan, Pinar Karadeniz, Durdugul Ayyildiz-Emecen, Ummuhan Oncul
PP63 Seasonal and gender variations in vitamin D levels in children with asthma and its association with pulmonary function tests
Sebnem Ozdogan, Gizem Sari, Sabanur Cavdar
PP64 Defining treatment response in childhood asthma: rationale and design of the Pharmacogenomics in the Childhood Asthma (PiCA) consortium
Niloufar Farzan, Susanne J. Vijverberg, Colin J. Palmer, Kelan G. Tantisira, Anke-Hilseon Maitland-van der Zee behalf of the PiCA consortium
PP65 Prevalence of asthma and allergic disease in patients with inflammatory disease compared to celiac disease
Fatma Yavuzyilmaz, Sebnem Ozdogan, Nafiye Urganci, Merve Usta
PP66 A severe case with cystic fibrosis (CF) asthma
Mehmet Hoxha, Maksim Basho
PP67 Severe asthma exacerbation complicated with pneumothorax in a child with uncontrolled asthma due to poor treatment compliance
Ioana Valentina Nenciu, Andreia Florina Nita, Adina Lazar, Alexandru Ulmeanu, Carmen Zapucioiu, Dumitru Oraseanu
PP68 Evaluation of the Pediatric Quality of Life inventory (PedsQL) asthma module among low income asthmatic children and adolescents in Sao Paolo, Brazil
Gustavo F. Wandalsen, Fernanda Monteiro, Dirceu Solé
PP69 Early initiation of specific immunotherapy in asthma patients leads to higher benefits
Blerta Lame, Eris Mesonjesi, Arjeta Sherri
PP70 Treatment resistant asthma and rhinosinusitis with recurrent pulmonary infections. Is it primary ciliary dyskinesia?
Alkerta Ibranji, Laert Gjati, Gjustina Loloci, Ardii Bardhi
PP71 The comparison of sensitisation to animal allergens in children- and adult- onset patients with asthma
Behnam Moghtaderi, Shirin Farjadian, Dorna Eghtedari
PP72 Characterisation of children less than five years with wheezing episodes in Cali, Colombia
Manuela Olaya, Laura Del Mar Vasquez, Luis Fernando Ramirez, Carlos Daniel Serrano
PP73 Evaluation of the patients with recurrent croup
Belgin Usta Guc, Suna Asilsoy, Fulya Ozer
PP74 Obesity in adolescence compromising the asthma control
Guergana Petrova, Sylvia Shopova, Vera Papochieva, Snezhina Lazova, Dimitrinka Miteva, Penka Perenovska
PP75 Sleep behavior in children with persistent allergic rhinitis
Gustavo F. Wandalsen, Jessica Loekmanwidjaja, Márcia Mallozi, Dirceu Solé
PP76 Randomised trial of the safety of MP29-02* compared with fluticasone propionate nasal spray in children aged ≥4 years to <12 years with allergic rhinitis
William Berger, Ulrich Wahn, Paul Ratner, Daniel Soteres
PP77 Safety and tolerability evaluation of bilastine 10 mg in children from 2 to 11 years of age with allergic rhinoconjunctivitis or urticaria
Zoltán Novák, Anahí Yáñez, Kiss Ildikó, Piotr Kuna, Miguel Tortajada, Román Valiente, the Bilastine Pediatric Safety Study Group
PP78 Sensitisation to Alternaria alternata: Is it a risk factor for severe rhinitis?
Susana Lopes, Filipa Almeida, Tânia Lopes, Cristina Madureira, José Oliveira, Fernanda Carvalho
PP79 Validation of the Patient Benefit Index (PBI) for the assessment of patient-related outcomes in allergic rhinitis in children
Julia Feuerhahn, Christine Blome, Meike Hadler, Efstrathios Karagiannis, Anna Langenbruch, Matthias Augustin
PP80 Efficacy of sublingual tablet of house dust mite allergen extracts in adolescents with house dust mite-associated allergic rhinitis
Michel Roux, Shinji Kakudo, Efstrathios Karagiannis, Robert K. Zeldin
PP81 Lung function improvement in a child treated with omalizumab for bronchial asthma
Anna Sokolova, Tiago Milheiro Silva
PP82 How to treat a child suffering from asthma, allergic rhinitis, allergy to peanuts and diabetes at the same time?
Snezana S. Zivanovic, Vesna Cvetkovic, Ivana Nikolic, Sonja J. Zivanovic
PP83 Nitric oxide in exhaled air in the relationship of the degree of sensitisation to aeroallergens
Snezana S. Zivanovic, Ljiljana Saranac, Ivana Nikolic, Sonja J. Zivanovic, Zorica Zivkovic
PP84 Clinical basis of diagnostic errors in pediatric asthma
Zoia Nesterenko
PP85
PP86 Childhood asthma control in Serbia and organised Asthma Educational Intervention (AEI)
Snezana Radic, Branislava Milenkovic, Spomenka Smiljanic, Milka Micic-Stanijevic, Olivera Calovic
PP87 Experience from a group of adolescents with severe allergic asthma treated with Omalizumab
Anne Marie Bro Hofbauer, Lone Agertoft
THEMATIC POSTER SESSION 1: Prevention and Treatment—Epidemiology (TP01–TP18)
TP01 A cost effective primary school asthma education program: pilot study from inner London schools
Lucy Everson, Jessica Kearney, Jonny Coppel, Simon Braithwaite, Rahul Chodhari
TP02 The prevalence of allergic diseases among 14–15 years old adolescents in two Danish birth cohorts 14 years apart
Elisabeth S. Christiansen, Henrik Fomsgaard Kjaer, Esben Eller, Charlotte G. Mørtz, Susanne Halken
TP03 Does pattern of sensitisation to phleum pratense change with age? Is it different in children with allergic rhinitis or asthma?
Cristina Román India, Ana Moreira Jorge, Loreto González Domínguez, Cristina Muñoz Archidona, Sergio Quevedo Teruel, Teresa Bracamonte Bermejo, Juana Jiménez Jiménez, Luis Echeverría Zudaire
TP04 Practicalities of prevention of peanut allergy: modelling a national response to LEAP
Cathal O’Connor, Jonathan Hourihane
TP05 Comparison of the influence of sunflower seed oil and skin care lotion on the skin barrier function of newborns: a randomised controlled trial
Varvara Kanti, Lena Lünnemann, Günther Malise, Laine Ludriksone, Andrea Stroux, Wolfgang Henrich, Michael Abu-Dakn, Ulrike Blume-Peytavi, Natalie Garcia Bartels
TP06 The effect of daily skin care on skin barrier properties in infants with dry skin and risk for atopic dermatitis
Varvara Kanti, Lena Lünnemann, Laine Ludriksone, Marianne Schario, Andrea Stroux, Ulrike Blume-Peytavi, Natalie Garcia Bartels
TP07 Change in sum total aeroallergen skin prick test wheal diameters at 6 months predicts which children will respond to subcutaneous immunotherapy by three years
Thorsten Stanley, Nicolien Brandenbarg
TP08 Are mobile apps regarding adrenaline auto-injectors accessed by adolescents for support and education in the community?
Alia Boardman, Gary McGreevy, Emily Rodger, Katherine Knight, Victoria Timms, Trisha Taylor, Gemma Scanlan, Roisin Fitzsimons
TP09
TP10 Prevention of early atopic dermatitis among low-atopy-risk infants by immunoactive prebiotics is not sustained after the first year of life
Grüber Christoph, Ulrich Wahn, Margriet van Stuivenberg, Fabio Mosca, Guido Moro, Gaetano Chirico, Christian P. Braegger, Joseph Riedler, Yalcin Yavuz, Günther Boehm
TP11
TP12
TP13 Treatment with Omalizumab in a 16-year-old Caucasian girl with refractory solar urticaria
Stefania Arasi, Giuseppe Crisafulli, Lucia Caminiti, Federica Porcaro, Giovanni Battista Pajno
TP14 Ultra-pure soft water ameliorates skin conditions of adult and child patients with atopic dermatitis
Akane Tanaka, Yaei Togawa, Kumiko Oida, Naotomo Kambe, Peter Arkwright, Yosuke Amagai, Naoki Shimojo, Yasunori Sato, Hiroyuki Mochizuki, Hyosun Jang, Saori Ishizaka, Hiroshi Matsuda
TP15 Potential adjuvant effect of immunomodulator to improve specific immunotherapy in asthmatic child
Wisnu Barlianto, Ery Olivianto, H. M. S. Chandra Kusuma
TP16 How can Component Resolved Diagnosis (CRD) influence in Specific Immunotherapy (SIT) prescription, in a Spanish children population
Ana Moreira Jorge, Cristina Román India, Loreto González Domínguez, Cristina Muñoz Archidona, Juana Jiménez Jiménez, Teresa Bracamonte Bermejo, Sergio Quevedo Teruel, Luis Echeverría Zudaire
TP17 Mitochondrial dysfunction in food allergy: effects of L. rhamnosus GG in a mice model of peanut allergy
Rosita Aitoro, Mariapia Mollica, Roberto Berni Canani, Giovanna Trinchese, Elena Alfano, Antonio Amoroso, Lorella Paparo, Francesco Amato, Claudio Pirozzi, Antonio Calignano, Rosaria Meli
TP18 Prediction of atopic diseases in childhood: elevated blood eosinophils in infancy in a high risk birth cohort
Siri Rossberg, Kerstin Gerhold, Kurt Zimmermann, Mohammad Zaino, Thomas Geske, Eckard Hamelmann, Susanne Lau
THEMATIC POSTER SESSION 2: Food allergy—Anaphylaxis (TP19–TP38)
TP19
TP20
TP21 Double-blind provocation tests in non-IgE mediated cow’s milk allergy and the occurrence of placebo reactions
Sarah Bogovic, Jochem van den Berg, Chantal Janssen
TP22 Gradual introduction of baked egg (BE) in egg allergic patients under 2 years old
Angela Claver
TP23 Randomised controlled trial of SOTI with raw hen’s egg in children with persistent egg allergy I: safety and efficacy of daily vs. weekly protocols of induction
Mª Flor Martin-Muñoz, C. Martorell, M. T. Belver, E. Alonso Lebrero, L. Zapatero, V. Fuentes, M. Piqué, A. Plaza, C. Muñoz, A. Martorell, Cristina Blasco, B. Villa, C. Gómez, S. Nevot, J. M. García, L. Echeverria
TP24 Randomised controlled trial of SOTI with raw hen’s egg in children with persistent egg allergy II: a randomised controlled trial to study a safer, more effective and easy to perform maintenance (daily vs. every two days) pattern of egg SOTI
Mª Flor Martin-Muñoz, C. Martorell, M. T. Belver, E. Alonso Lebrero, L. Zapatero, V. Fuentes, M. Piqué, A. Plaza, C. Muñoz, A. Martorell, Cristina Blasco, B. Villa, C. Gómez, S. Nevot, J. M. García, L. Echeverria
TP25 Determining the safety of baked egg home reintroduction for children with mild egg allergy
Brenda DeWitt, Judith Holloway, Donald Hodge
TP26 Demographics, investigations and patterns of sensitisation in children with oral allergy syndrome in a London Teaching Hospital
Sian Ludman, Merhdad Jafari-Mamaghani, Rosemary Ebling, Adam T. Fox, Gideon Lack, George Du Toit
TP27 Airborne peanut challenge in children: allergic reactions are rare
Sofia Lovén Björkman, Caroline Nilsson, Natalia Ballardini
TP28 The nutty question on Pediatric Wards: to be or “nut” to be?
Supriyo Basu, Jenny Hallet, Jyothi Srinivas
TP29
TP30
TP31 Allergy education in nursery schools
Hazel Stringer, Nicola Jay
TP32 Food allergy in the first year of life
Tânia Lopes, Cristina Madureira, Filipa Almeida, Susana Lopes, Paula Fonseca, Clara Vieira, Fernanda Carvalho
TP33 Prevalence and geographic distribution of oral allergy syndrome in Italian children: a multicenter study
Carla Mastrorilli, Carlo Caffarelli, Riccardo Asero, Salvatore Tripodi, Arianna Dondi, Gianpaolo Ricci, Carlotta Povesi Dascola, Elisabetta Calamelli, Francesca Cipriani, Andrea Di Rienzo Businco, Annamaria Bianchi, Paolo Candelotti, Tullio Frediani, Carmen Verga, Paolo Maria Matricardi
TP34 Are common standardised allergen extracts used in skin test enough in the diagnosis of nuts allergy?
Cristina Muñoz Archidona, Loreto González Domínguez, Ana Moreira Jorge, Sergio Quevedo Teruel, Teresa Bracamonte Bermejo, Miriam Castillo Fernández, Fernando Pineda de la Losa, Luis Ángel Echeverría Zudaire
TP35 Evaluation of IgE sensitisation in children with allergic proctocolitis and its relationship to atopic dermatitis
Despina Mermiri, Paraskevi Korovessi, Skevi Tiliakou, Evaggelia Tavoulari, Kalliopi-Maria Moraiti, Fotini Giannoula, Athina Papadopoulou
TP36 Food allergy in children: are we managing them appropriately in the Emergency Department?
Wan Jean Tee, Samir Deiratany, Raymond Seedhoo, Roisin McNamara, Ike Okafor
TP37 Importance of oil body associated allergenic proteins in nuts suspected allergy children
Loreto González Domínguez, Ana Moreira Jorge, Cristina Muñoz Archidona, Teresa Bracamonte Bermejo, Sergio Quevedo Teruel, Fernando Pineda de la Losa, Miriam Castillo Fernández, Luis Ángel Echeverría Zudaire
TP38 Practical application of basophil activation test in children with food allergy
Ekaterina Khaleva, Gennady Novic, Natalia Bychkova
THEMATIC POSTER SESSION 3: Asthma (TP39–TP57)
TP39 Effect of corticosteroid therapy upon serum magnesium level in chronic asthmatic children
Amany Abd Al-Aziz, Amany Fatouh, Ayat Motawie, Eman El Bostany, Amr Ibrahim
TP40 ADAM33 in Bulgarian children with asthma
Guergana Petrova, Dimitrinka Miteva, Snezhina Lazova, Penka Perenovska, Sylvia Andonova, Alexey Savov
TP41
TP42 The impact of vitamin D serum levels in asthma and allergic rhinitis
Maria Zoto, Marialena Kyriakakou, Paraskevi Xepapadaki, Nikolaos G. Papadopoulos
TP43 Life-threatening, first reported, paradoxical bronchospasm after nebulised Salbutamol in a 10 year old child
Paraskevi Korovessi, Mariza Vassilopoulou, Athina Balaska, Lambros Banos, Stavroula Kostaridou, Despina Mermiri
TP44
TP45 Asthma symptoms in children with treatment for allergic rhinoconjunctivitis
Jorien Wartna, Arthur M. Bohnen, Gijs Elshout, David H. J. Pols, Patrick J. E. Bindels
Erasmus MC, Rotterdam, The Netherlands
TP46 Atopy increased the risk of developing exercise-induced bronchoconstriction in young athletes
Sven F. Seys; Ellen Dilissen, Sarah Van der Eycken, An-Sofie Schelpe, Gudrun Marijsse, Thierry Troosters, Vincent Vanbelle, Sven Aertgeerts, Jan L. Ceuppens, Lieven J. Dupont, Koen Peers, Dominique M. Bullens
TP47 The effect of higher BMI on risk for asthma and treatment outcome in overweight and obese children
Ivana Banic, Sandra Bulat Lokas, Jelena Zivkovic, Boro Nogalo, Iva Mrkic Kobal, Davor Plavec, Mirjana Turkalj
TP48
TP49
TP50
TP51
TP52 The impact of a multidisciplinary project intended to change the culture of nebulisers towards pressurised metered dose inhalers
Georgeta Oliveira, Katharine Pike, Alda Melo, Tomás Amélia, José Carlos Cidrais Rodrigues, Cristina Serrano, José Manuel Lopes dos Santos, Carla Lopes
TP53
TP54
TP55
TP56 Increased asthma control in patients with severe persistent allergic asthma after 12 month of nightly temperature controlled laminar airflow (TLA)
Eckard Hamelmann, Uwe Schauer, Karl-Christian Bergmann
TP57
THEMATIC POSTER SESSION 4: Drug allergy—Dermatology (TP58–TP77)
TP58 Should we proceed directly to provocation challenges to diagnose drug allergy? Our experience says yes
Luis Moral, Teresa Toral, Nuria Marco, Beléns García Avilés, Mª Jesús Fuentes, Jesús Garde, Cristina Montahud, Javier Perona, Mª José Forniés
TP59 Anaphylaxis to 13-valent pneumococcal vaccine
Esozia Arroabarren, Marta Anda, Maria Luisa Sanz, Maria Teresa Lizaso, Candida Arregui
TP60 Intrapartum antibiotic exposure for treatment of group B streptococcus was not associated with the development of penicillin allergy in children
Sara May, Martha Hartz, Avni Joshi, Miguel A. Park
TP61 Evaluation of suspected drug hypersensitivity reactions in 169 children referred to the General Hospital
Sonja Posega Devetak, Tina Vesel, Anja Koren Jeverica, Tadej Avčin
TP62 Drug provocation testing: experience of a tertiary hospital
Leonor Castro, Carolina Gouveia, Ana Carvalho Marques, Antonio Jorge Cabral
TP63 Perioperative anaphylaxis: a growing concern in pediatric population
Luis Amaral, Fabrícia Carolino, Eunice Castro, Madalena Passos, Josefina R. Cernadas
TP64 Raising awareness of hypersensitivity to non-steroidal anti-inflammatory drugs in the pediatric age
Fabrícia Carolino, Luís Amaral, Eunice Dias de Castro, Josefina R. Cernadas
TP65 Perioperative anaphylaxis in young children: how to confirm the suspicion
Josefina R. Cernadas, Fabrícia Carolino, Luís Amaral, Fernando Pineda, Armanda Gomes
TP66 A case study of a child suspected to be penicillin allergic-digging deeper
Katherine Knight, Roisin Fitzsimons, Helen Brough
TP67 Prevalence, characteristics and risk factors of hypersensitivity reactions to antibiotics in patients with cystic fibrosis
Jobst Röhmel, Carsten Schwarz, Anne Mehl, Philippe Stock, Doris Staab
TP68 Antibiotic drug hypersensitivity in cystic fibrosis: A pilot study using cellular allergy tests for diagnostics
Jobst Röhmel, Carsten Schwarz, Christine Seib, Doris Staab, Philippe Stock
TP69 Oral antibiotics challenges in children
Anita Critchlow, Alyson Barber, Nicola Jay
TP70 Hypersensitivity reaction to vancomycin: a new successful desensitization protocol
Belen Delavalle, Teresa Garriga, Blanca Vilá, Cristina Blasco
TP71
TP72 Clinical phenotypes according to FLG gene loss of function mutations in children with atopic dermatitis
Francesca Cipriani, Annalisa Astolfi, Costanza Di Chiara, Elisabetta Calamelli, Iria Neri, Annalisa Patrizi, Gianpaolo Ricci
TP73
TP74 Urticaria in children: clinical and epidemiological features
Katerina Neskorodova, Asya Kudryavtseva
TP75
TP76 Acute urticaria at the Pediatrics Emergency Department: is it allergy?
Esozia Arroabarren, Jorge Alvarez, Marta Anda, Miriam Palacios, Marta Martinez-Merino, Ibone Vaquero
TP77
doi:10.1186/s13601-016-0117-8
PMCID: PMC5123301
2.  Cysteinyl Leukotrienes Pathway Genes, Atopic Asthma and Drug Response: From Population Isolates to Large Genome-Wide Association Studies 
Genetic variants associated with asthma pathogenesis and altered response to drug therapy are discussed. Many studies implicate polymorphisms in genes encoding the enzymes responsible for leukotriene synthesis and intracellular signaling through activation of seven transmembrane domain receptors, such as the cysteinyl leukotriene 1 (CYSLTR1) and 2 (CYSLTR2) receptors. The leukotrienes are polyunsaturated lipoxygenated eicosatetraenoic acids that exhibit a wide range of pharmacological and physiological actions. Of the three enzymes involved in the formation of the leukotrienes, arachidonate 5 lipoxygenase 5 (ALOX5), leukotriene C4 synthase (LTC4S), and leukotriene hydrolase (LTA4H) are all polymorphic. These polymorphisms often result in variable production of the CysLTs (LTC4, LTD4, and LTE4) and LTB4. Variable number tandem repeat sequences located in the Sp1-binding motif within the promotor region of the ALOX5 gene are associated with leukotriene burden and bronchoconstriction independent of asthma risk. A 444A > C SNP polymorphism in the LTC4S gene, encoding an enzyme required for the formation of a glutathione adduct at the C-6 position of the arachidonic acid backbone, is associated with severe asthma and altered response to the CYSLTR1 receptor antagonist zafirlukast. Genetic variability in the CysLT pathway may contribute additively or synergistically to altered drug responses. The 601 A > G variant of the CYSLTR2 gene, encoding the Met201Val CYSLTR2 receptor variant, is associated with atopic asthma in the general European population, where it is present at a frequency of ∼2.6%. The variant was originally found in the founder population of Tristan da Cunha, a remote island in the South Atlantic, in which the prevalence of atopy is approximately 45% and the prevalence of asthma is 36%. In vitro work showed that the atopy-associated Met201Val variant was inactivating with respect to ligand binding, Ca2+ flux and inositol phosphate generation. In addition, the CYSLTR1 gene, located at Xq13-21.1, has been associated with atopic asthma. The activating Gly300Ser CYSLTR1 variant is discussed. In addition to genetic loci, risk for asthma may be influenced by environmental factors such as smoking. The contribution of CysLT pathway gene sequence variants to atopic asthma is discussed in the context of other genes and environmental influences known to influence asthma.
doi:10.3389/fphar.2016.00299
PMCID: PMC5131607  PMID: 27990118
montelukast; pharmacogenetics; pharmacogenomics; cysteinyl leukotriene 1 (CYSLTR1); cysteinyl leukotriene 2 (CYSLTR2); epistasis; epigenetics; Tristan da Cunha
3.  Familial aggregation of albuminuria and arterial hypertension in an Aboriginal Australian community and the contribution of variants in ACE and TP53 
BMC Nephrology  2016;17:183.
Background
Aboriginal Australians are at high risk of cardiovascular, metabolic and renal diseases, resulting in a marked reduction in life expectancy when compared to the rest of the Australian population. This is partly due to recognized environmental and lifestyle risk factors, but a contribution of genetic susceptibility is also likely.
Methods
Using results from a comprehensive survey of one community (N = 1350 examined individuals), we have tested for familial aggregation of plasma glucose, arterial blood pressure, albuminuria (measured as urinary albumin to creatinine ratio, UACR) and estimated glomerular filtration rate (eGFR), and quantified the contribution of variation at four candidate genes (ACE; TP53; ENOS3; MTHFR).
Results
In the subsample of 357 individuals with complete genotype and phenotype data we showed that both UACR (h2 = 64%) and blood pressure (sBP h2 = 29%, dBP, h2 = 11%) were significantly heritable. The ACE insertion-deletion (P = 0.0009) and TP53 codon72 polymorphisms (P = 0.003) together contributed approximately 15% of the total heritability of UACR, with an effect of ACE genotype on BP also clearly evident.
Conclusions
While the effects of the ACE insertion-deletion on risk of renal disease (especially in the setting of diabetes) are well recognized, this is only the second study to implicate p53 genotype as a risk factor for albuminuria - the other being an earlier study we performed in a different Aboriginal community (McDonald et al., J Am Soc Nephrol 13: 677-83, 2002). We conclude that there are significant genetic contributions to the high prevalence of chronic diseases observed in this population.
Electronic supplementary material
The online version of this article (doi:10.1186/s12882-016-0396-2) contains supplementary material, which is available to authorized users.
doi:10.1186/s12882-016-0396-2
PMCID: PMC5117595  PMID: 27871254
Albuminuria; Epidemiology; Genetics; Heritability
4.  Meta-analysis of genome-wide association studies identifies 10 loci influencing allergic sensitization 
Nature genetics  2013;45(8):902-906.
Allergen-specific IgE (allergic sensitization) plays a central role in the pathogenesis of allergic disease. We performed the first large-scale genome wide association study (GWAS) of allergic sensitization in 5,789 affected individuals and 10,056 controls and followed up the top SNP from 26 loci in 6,114 affected individuals and 9,920 controls. We increased the number of susceptibility loci with genome-wide significant association to allergic sensitization from three to 10, including SNPs in or near TLR6, C11orf30, STAT6, SLC25A46, HLA-DQB1, IL1RL1, LPP, MYC, IL2 and HLA-B. All the top-SNPs were associated with allergic symptoms in an independent study. Risk variants at these 10 loci were estimated to account for at least 25% of allergic sensitization and allergic rhinitis. Understanding the molecular mechanisms underlying these associations may provide novel insight into the etiology of allergic disease.
doi:10.1038/ng.2694
PMCID: PMC4922420  PMID: 23817571
5.  Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma 
Law, Matthew H. | Bishop, D. Timothy | Lee, Jeffrey E. | Brossard, Myriam | Martin, Nicholas G. | Moses, Eric K. | Song, Fengju | Barrett, Jennifer H. | Kumar, Rajiv | Easton, Douglas F. | Pharoah, Paul D. P. | Swerdlow, Anthony J. | Kypreou, Katerina P. | Taylor, John C. | Harland, Mark | Randerson-Moor, Juliette | Akslen, Lars A. | Andresen, Per A. | Avril, Marie-Françoise | Azizi, Esther | Scarrà, Giovanna Bianchi | Brown, Kevin M. | Dȩbniak, Tadeusz | Duffy, David L. | Elder, David E. | Fang, Shenying | Friedman, Eitan | Galan, Pilar | Ghiorzo, Paola | Gillanders, Elizabeth M. | Goldstein, Alisa M. | Gruis, Nelleke A. | Hansson, Johan | Helsing, Per | Hočevar, Marko | Höiom, Veronica | Ingvar, Christian | Kanetsky, Peter A. | Chen, Wei V. | Landi, Maria Teresa | Lang, Julie | Lathrop, G. Mark | Lubiński, Jan | Mackie, Rona M. | Mann, Graham J. | Molven, Anders | Montgomery, Grant W. | Novaković, Srdjan | Olsson, Håkan | Puig, Susana | Puig-Butille, Joan Anton | Qureshi, Abrar A. | Radford-Smith, Graham L. | van der Stoep, Nienke | van Doorn, Remco | Whiteman, David C. | Craig, Jamie E. | Schadendorf, Dirk | Simms, Lisa A. | Burdon, Kathryn P. | Nyholt, Dale R. | Pooley, Karen A. | Orr, Nicholas | Stratigos, Alexander J. | Cust, Anne E. | Ward, Sarah V. | Hayward, Nicholas K. | Han, Jiali | Schulze, Hans-Joachim | Dunning, Alison M. | Bishop, Julia A. Newton | Demenais, Florence | Amos, Christopher I. | MacGregor, Stuart | Iles, Mark M.
Nature genetics  2015;47(9):987-995.
Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international two-stage meta-analysis of 11 genome-wide association studies (GWAS, five unpublished) of CMM and Stage two datasets, totaling 15,990 cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5×10−8) as did two previously-reported but un-replicated loci and all thirteen established loci. Novel SNPs fall within putative melanocyte regulatory elements, and bioinformatic and eQTL data highlight candidate genes including one involved in telomere biology.
doi:10.1038/ng.3373
PMCID: PMC4557485  PMID: 26237428
6.  Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma 
Law, Matthew H. | Bishop, D. Timothy | Lee, Jeffrey E. | Brossard, Myriam | Martin, Nicholas G. | Moses, Eric K. | Song, Fengju | Barrett, Jennifer H. | Kumar, Rajiv | Easton, Douglas F. | Pharoah, Paul D. P. | Swerdlow, Anthony J. | Kypreou, Katerina P. | Taylor, John C. | Harland, Mark | Randerson-Moor, Juliette | Akslen, Lars A. | Andresen, Per A. | Avril, Marie-Françoise | Azizi, Esther | Scarrà, Giovanna Bianchi | Brown, Kevin M. | Dębniak, Tadeusz | Duffy, David L. | Elder, David E. | Fang, Shenying | Friedman, Eitan | Galan, Pilar | Ghiorzo, Paola | Gillanders, Elizabeth M. | Goldstein, Alisa M. | Gruis, Nelleke A. | Hansson, Johan | Helsing, Per | Hočevar, Marko | Höiom, Veronica | Ingvar, Christian | Kanetsky, Peter A. | Chen, Wei V. | Landi, Maria Teresa | Lang, Julie | Lathrop, G. Mark | Lubiński, Jan | Mackie, Rona M. | Mann, Graham J. | Molven, Anders | Montgomery, Grant W. | Novaković, Srdjan | Olsson, Håkan | Puig, Susana | Puig-Butille, Joan Anton | Qureshi, Abrar A. | Radford-Smith, Graham L. | van der Stoep, Nienke | van Doorn, Remco | Whiteman, David C. | Craig, Jamie E. | Schadendorf, Dirk | Simms, Lisa A. | Burdon, Kathryn P. | Nyholt, Dale R. | Pooley, Karen A. | Orr, Nick | Stratigos, Alexander J. | Cust, Anne E. | Ward, Sarah V. | Hayward, Nicholas K. | Han, Jiali | Schulze, Hans-Joachim | Dunning, Alison M. | Bishop, Julia A. Newton | Demenais, Florence | Amos, Christopher I. | MacGregor, Stuart | Iles, Mark M.
Nature genetics  2015;47(9):987-995.
Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5×10–8), as did two previously-reported but un-replicated loci and all thirteen established loci. Novel SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes including one involved in telomere biology.
doi:10.1038/ng.3373
PMCID: PMC4557485  PMID: 26237428
7.  Head Motion and Inattention/Hyperactivity Share Common Genetic Influences: Implications for fMRI Studies of ADHD 
PLoS ONE  2016;11(1):e0146271.
Head motion (HM) is a well known confound in analyses of functional MRI (fMRI) data. Neuroimaging researchers therefore typically treat HM as a nuisance covariate in their analyses. Even so, it is possible that HM shares a common genetic influence with the trait of interest. Here we investigate the extent to which this relationship is due to shared genetic factors, using HM extracted from resting-state fMRI and maternal and self report measures of Inattention and Hyperactivity-Impulsivity from the Strengths and Weaknesses of ADHD Symptoms and Normal Behaviour (SWAN) scales. Our sample consisted of healthy young adult twins (N = 627 (63% females) including 95 MZ and 144 DZ twin pairs, mean age 22, who had mother-reported SWAN; N = 725 (58% females) including 101 MZ and 156 DZ pairs, mean age 25, with self reported SWAN). This design enabled us to distinguish genetic from environmental factors in the association between head movement and ADHD scales. HM was moderately correlated with maternal reports of Inattention (r = 0.17, p-value = 7.4E-5) and Hyperactivity-Impulsivity (r = 0.16, p-value = 2.9E-4), and these associations were mainly due to pleiotropic genetic factors with genetic correlations [95% CIs] of rg = 0.24 [0.02, 0.43] and rg = 0.23 [0.07, 0.39]. Correlations between self-reports and HM were not significant, due largely to increased measurement error. These results indicate that treating HM as a nuisance covariate in neuroimaging studies of ADHD will likely reduce power to detect between-group effects, as the implicit assumption of independence between HM and Inattention or Hyperactivity-Impulsivity is not warranted. The implications of this finding are problematic for fMRI studies of ADHD, as failing to apply HM correction is known to increase the likelihood of false positives. We discuss two ways to circumvent this problem: censoring the motion contaminated frames of the RS-fMRI scan or explicitly modeling the relationship between HM and Inattention or Hyperactivity-Impulsivity.
doi:10.1371/journal.pone.0146271
PMCID: PMC4712830  PMID: 26745144
8.  Meta-analysis identifies seven susceptibility loci involved in the atopic march 
Marenholz, Ingo | Esparza-Gordillo, Jorge | Rüschendorf, Franz | Bauerfeind, Anja | Strachan, David P. | Spycher, Ben D. | Baurecht, Hansjörg | Margaritte-Jeannin, Patricia | Sääf, Annika | Kerkhof, Marjan | Ege, Markus | Baltic, Svetlana | Matheson, Melanie C. | Li, Jin | Michel, Sven | Ang, Wei Q. | McArdle, Wendy | Arnold, Andreas | Homuth, Georg | Demenais, Florence | Bouzigon, Emmanuelle | Söderhäll, Cilla | Pershagen, Göran | de Jongste, Johan C. | Postma, Dirkje S. | Braun-Fahrländer, Charlotte | Horak, Elisabeth | Ogorodova, Ludmila M. | Puzyrev, Valery P. | Bragina, Elena Yu | Hudson, Thomas J. | Morin, Charles | Duffy, David L. | Marks, Guy B. | Robertson, Colin F. | Montgomery, Grant W. | Musk, Bill | Thompson, Philip J. | Martin, Nicholas G. | James, Alan | Sleiman, Patrick | Toskala, Elina | Rodriguez, Elke | Fölster-Holst, Regina | Franke, Andre | Lieb, Wolfgang | Gieger, Christian | Heinzmann, Andrea | Rietschel, Ernst | Keil, Thomas | Cichon, Sven | Nöthen, Markus M. | Pennell, Craig E. | Sly, Peter D. | Schmidt, Carsten O. | Matanovic, Anja | Schneider, Valentin | Heinig, Matthias | Hübner, Norbert | Holt, Patrick G. | Lau, Susanne | Kabesch, Michael | Weidinger, Stefan | Hakonarson, Hakon | Ferreira, Manuel A. R. | Laprise, Catherine | Freidin, Maxim B. | Genuneit, Jon | Koppelman, Gerard H. | Melén, Erik | Dizier, Marie- Hélène | Henderson, A John | Lee, Young Ae
Nature Communications  2015;6:8804.
Eczema often precedes the development of asthma in a disease course called the ‘atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10−8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10−9). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema.
The development of asthma following eczema is known as the atopic march. Here the authors conduct a GWAS on affected children and identify two novel loci associated with the disease phenotype.
doi:10.1038/ncomms9804
PMCID: PMC4667629  PMID: 26542096
9.  Identification of a melanoma susceptibility locus and somatic mutation in TET2  
Carcinogenesis  2014;35(9):2097-2101.
Summary
We performed a genome-wide association study and identified single-nucleotide polymorphism rs4698934 located in the intron of the TET2 gene on chromosome 4q24 nominally significantly associated with melanoma risk, and a novel somatic mutation of TET2 was identified in melanoma case.
Although genetic studies have reported a number of loci associated with melanoma risk, the complex genetic architecture of the disease is not yet fully understood. We sought to identify common genetic variants associated with melanoma risk in a genome-wide association study (GWAS) of 2298 cases and 6654 controls. Thirteen of 15 known loci were replicated with nominal significance. A total of 69 single-nucleotide polymorphisms (SNPs) were selected for in silico replication in two independent melanoma GWAS datasets (a total of 5149 cases and 12 795 controls). Seven novel loci were nominally significantly associated with melanoma risk. These seven SNPs were further genotyped in 234 melanoma cases and 238 controls. The SNP rs4698934 was nominally significantly associated with melanoma risk. The combined odds ratio per T allele = 1.18; 95% confidence interval (1.10–1.25); combined P = 7.70 × 10− 7. This SNP is located in the intron of the TET2 gene on chromosome 4q24. In addition, a novel somatic mutation of TET2 was identified by next-generation sequencing in 1 of 22 sporadic melanoma cases. TET2 encodes a member of TET family enzymes that oxidizes 5-methylcytosine to 5-hydroxymethylcytosine (5hmC). It is a putative epigenetic biomarker of melanoma as we previously reported, with observation of reduced TET2 transcriptional expression. This study is the first to implicate TET2 genetic variation and mutation in melanoma.
doi:10.1093/carcin/bgu140
PMCID: PMC4146422  PMID: 24980573
10.  Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits 
Pigment cell & melanoma research  2014;27(4):552-564.
Summary
We have compared the melanogenic activities of cultured melanocytes carrying two common TYR alleles as homozygous 192S-402R wildtype, heterozygous and homozygous variant. This includes assays of TYR protein, DOPAoxidase activity, glycosylation and temperature sensitivity of protein and DOPAoxidase levels. Homozygous wildtype strains on average had higher levels of TYR protein and enzyme activity than other genotypes. Homozygous 402Q/Q melanocytes produced significantly less TYR protein, displayed altered trafficking and glycosylation, with reduced DOPAoxidase. However, near wildtype TYR activity levels could be recovered at lower growth temperature. In a sample population from Southeast Queensland these two polymorphisms were present on four TYR haplotypes, designated as WT 192S-402R, 192Y-402R, 192S-402Q with a double variant 192Y-402Q of low frequency at 1.9%. Based on cell culture findings and haplotype associations, we have used an additive model to assess the penetrance of the ten possible TYR genotypes derived from the combination of these haplotypes.
doi:10.1111/pcmr.12253
PMCID: PMC4119297  PMID: 24739399
Tyrosinase; Pigmentation; Melanocyte; Albinism; Melanin
11.  Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype 
Background
To date, no genome-wide association study (GWAS) has considered the combined phenotype of asthma with hay fever. Previous analyses of family data from the Tasmanian Longitudinal Health Study provide evidence that this phenotype has a stronger genetic cause than asthma without hay fever.
Objective
We sought to perform a GWAS of asthma with hay fever to identify variants associated with having both diseases.
Methods
We performed a meta-analysis of GWASs comparing persons with both physician-diagnosed asthma and hay fever (n = 6,685) with persons with neither disease (n = 14,091).
Results
At genome-wide significance, we identified 11 independent variants associated with the risk of having asthma with hay fever, including 2 associations reaching this level of significance with allergic disease for the first time: ZBTB10 (rs7009110; odds ratio [OR], 1.14; P = 4 × 10−9) and CLEC16A (rs62026376; OR, 1.17; P = 1 × 10−8). The rs62026376:C allele associated with increased asthma with hay fever risk has been found to be associated also with decreased expression of the nearby DEXI gene in monocytes. The 11 variants were associated with the risk of asthma and hay fever separately, but the estimated associations with the individual phenotypes were weaker than with the combined asthma with hay fever phenotype. A variant near LRRC32 was a stronger risk factor for hay fever than for asthma, whereas the reverse was observed for variants in/near GSDMA and TSLP. Single nucleotide polymorphisms with suggestive evidence for association with asthma with hay fever risk included rs41295115 near IL2RA (OR, 1.28; P = 5 × 10−7) and rs76043829 in TNS1 (OR, 1.23; P = 2 × 10−6).
Conclusion
By focusing on the combined phenotype of asthma with hay fever, variants associated with the risk of allergic disease can be identified with greater efficiency.
doi:10.1016/j.jaci.2013.10.030
PMCID: PMC4280183  PMID: 24388013
Rhinitis; atopy; selection; genetic correlation; bivariate; single nucleotide polymorphism
12.  Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up 
Human Genetics  2015;134(8):823-835.
In the International Visible Trait Genetics (VisiGen) Consortium, we investigated the genetics of human skin color by combining a series of genome-wide association studies (GWAS) in a total of 17,262 Europeans with functional follow-up of discovered loci. Our GWAS provide the first genome-wide significant evidence for chromosome 20q11.22 harboring the ASIP gene being explicitly associated with skin color in Europeans. In addition, genomic loci at 5p13.2 (SLC45A2), 6p25.3 (IRF4), 15q13.1 (HERC2/OCA2), and 16q24.3 (MC1R) were confirmed to be involved in skin coloration in Europeans. In follow-up gene expression and regulation studies of 22 genes in 20q11.22, we highlighted two novel genes EIF2S2 and GSS, serving as competing functional candidates in this region and providing future research lines. A genetically inferred skin color score obtained from the 9 top-associated SNPs from 9 genes in 940 worldwide samples (HGDP-CEPH) showed a clear gradual pattern in Western Eurasians similar to the distribution of physical skin color, suggesting the used 9 SNPs as suitable markers for DNA prediction of skin color in Europeans and neighboring populations, relevant in future forensic and anthropological investigations.
Electronic supplementary material
The online version of this article (doi:10.1007/s00439-015-1559-0) contains supplementary material, which is available to authorized users.
doi:10.1007/s00439-015-1559-0
PMCID: PMC4495261  PMID: 25963972
13.  A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk 
Genes and immunity  2013;14(7):441-446.
The main genetic determinant of soluble IL-6R levels is the missense variant rs2228145, which maps to the cleavage site of IL-6R. For each Ala allele, sIL-6R serum levels increase by ~20 ng/ml and asthma risk by 1.09-fold. However, this variant does not explain the total heritability for sIL-6R levels. Additional independent variants in IL6R may therefore contribute to variation in sIL-6R levels and influence asthma risk. We imputed 471 variants in IL6R and tested these for association with sIL-6R serum levels in 360 individuals. An intronic variant (rs12083537) was associated with sIL-6R levels independently of rs4129267 (P = 0.0005), a proxy SNP for rs2228145. A significant and consistent association for rs12083537 was observed in a replication panel of 354 individuals (P = 0.033). Each rs12083537:A allele increased sIL-6R serum levels by 2.4 ng/ml Analysis of mRNA levels in two cohorts did not identify significant associations between rs12083537 and IL6R transcription levels. On the other hand, results from 16 705 asthmatics and 30 809 controls showed that the rs12083537:A allele increased asthma risk by 1.04-fold (P = 0.0419). Genetic risk scores based on IL6R regulatory variants may prove useful in explaining variation in clinical response to tocilizumab, an anti-IL-6R monoclonal antibody.
doi:10.1038/gene.2013.38
PMCID: PMC4233139  PMID: 23945879
allergy; eQTL; expression; disease
14.  Early life environmental predictors of asthma age-of-onset 
Prevention strategies that delay the onset of asthma may improve clinical outcomes. To identify early life environmental exposures associated with asthma age-of-onset and potential genetic modifiers of these exposures, we studied 1085 subjects with physician-diagnosed asthma and disease onset at or after age two. Subjects reported retrospectively on their exposure to 17 environmental factors before the age of two. The presence of individual or combinations of these early life exposures was then tested for association with variation in asthma age-of-onset. For exposures significantly associated with age-of-onset, we tested if 26 single nucleotide polymorphisms (SNP) with an established association with allergic disease significantly modified the effect of the exposure. Five environmental exposures were significantly associated with variation in asthma age-of-onset after correction for multiple testing: carpet at home (P = 6 × 10−5), a serious chest illness (P = 10−4), father a cigarette smoker (P = 6 × 10−4) and direct exposure to father's smoking (P = 3 × 10−4). Individuals with early childhood asthma onset, between the ages of two and six, were 1.4-fold (CI 1.1–1.9) more likely to report having lived in a house with carpet and 2.1-fold (CI 1.3–3.5) more likely to report suffering a serious chest illness before the age of two, than asthmatics with later disease onset. We further found these individual risks to increase to 3.2-fold (CI 1.7–6.0) if carpet exposure and suffering a serious chest illness co-occurred before age two. Paternal smoking exposures were less likely to be reported by asthmatics with early when compared to later disease onset (OR 0.5, CI 0.3–0.7). There were no significant SNP interactions with these environmental exposures after correction for multiple testing. Our results suggest that disease onset in individuals at a high-risk of developing asthma can potentially be delayed by avoiding exposure to carpet at home and preventing serious chest illnesses during the first 2 years of life.
doi:10.1002/iid3.27
PMCID: PMC4257759  PMID: 25505548
age; atopy; IL6R; infections; tobacco
15.  Human pigmentation genes under environmental selection 
Genome Biology  2012;13(9):248.
Genome-wide association studies and comparative genomics have established major loci and specific polymorphisms affecting human skin, hair and eye color. Environmental changes have had an impact on selected pigmentation genes as populations have expanded into different regions of the globe.
doi:10.1186/gb-2012-13-9-248
PMCID: PMC3491390  PMID: 23110848
16.  The Queensland study of Melanoma: Environmental and Genetic Associations (Q-MEGA). Study design, baseline characteristics, and repeatability of phenotype and sun exposure measures 
Cutaneous malignant melanoma (CMM) is a major health issue in Queensland, Australia which has the world’s highest incidence. Recent molecular and epidemiologic studies suggest that CMM arises through multiple etiological pathways involving gene-environment interactions. Understanding the potential mechanisms leading to CMM requires larger studies than those previously conducted. This article describes the design and baseline characteristics of Q-MEGA, the Queensland study of Melanoma: Environmental and Genetic Associations, which followed-up four population-based samples of CMM patients in Queensland, including children, adolescents, men aged over 50, and a large sample of adult cases and their families, including twins. Q-MEGA aims to investigate the roles of genetic and environmental factors, and their interaction, in the etiology of melanoma. 3,471 participants took part in the follow-up study and were administered a computer-assisted telephone interview in 2002–2005. Updated data on environmental and phenotypic risk factors, and 2,777 blood samples were collected from interviewed participants as well as a subset of relatives. This study provides a large and well-described population-based sample of CMM cases with follow-up data. Characteristics of the cases and repeatability of sun exposure and phenotype measures between the baseline and the follow-up surveys, from six to 17 years later, are also described.
doi:10.1375/twin.11.2.183
PMCID: PMC3677021  PMID: 18361720
17.  Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma 
We have previously described the role of red hair (Melanocortin 1 Receptor, MC1R) and blue eye (Oculocutaneous Albinism Type 2, OCA2) gene polymorphisms in modulating risk of cutaneous malignant melanoma (CMM) in a highly sun-exposed population of European descent. A number of recent studies, including genome-wide association studies (GWAS), have identified numerous polymorphisms controlling human hair, eye and skin colour. In this paper, we test a selected set of polymorphisms in pigmentation loci (ASIP, TYR, TYRP1, MC1R, OCA2, IRF4, SLC24A4, SLC45A2) for association with CMM risk in a large Australian population-based case control study. Variants in IRF4 and SLC24A4, despite being strongly associated with pigmentation in our sample, did not modify CMM risk, but the other six did. Three SNPs (rs28777, rs35391, rs16891982) in the MATP gene (SLC45A2) exhibited the strongest crude association with risk, but this was attenuated to approximately the same effect size as that of a MC1R red hair color allele by controlling for ancestry of cases and controls. We also detected significant epistatic interactions between SLC45A2 and OCA2 alleles, and MC1R and ASIP alleles. Overall, these measured variants account for 12% of the familial risk of CMM in our population.
doi:10.1038/jid.2009.258
PMCID: PMC3672059  PMID: 19710684
18.  Polymorphisms in the Syntaxin 17 Gene are not Associated with Human Cutaneous Malignant Melanoma 
Melanoma research  2009;19(2):80-86.
The prevalence of cutaneous malignant melanoma (CMM) has increased significantly in most Caucasian populations in recent decades. Both genetic and environment are significant risk factors involved in the development of CMM. A germline mutation in the Syntaxin 17 (STX17) gene was recently identified in horses causing premature hair gray and associated with susceptibility to melanoma. We hypothesized that common germline variants in the STX17 gene might be associated with predisposition to human CMM or might interact with other melanoma risk genes. We conducted a case-control study by genotyping 26 tagging single nucleotide polymorphisms (SNPs) across the STX17 gene region in an Australian sample and performed logistic regression analysis for predicting the possible SNP interactions in a combined dataset. Our results do not support an association between CMM and any of the STX17 SNPs and provide no evidence for interactions between the melanoma risk SNP rs910873 on chromosome 20 and any of the STX17 SNPs. We conclude that common variants in the STX17 gene region do not play a key role in the pathogenesis of human melanoma.
doi:10.1097/CMR.0b013e328322fc45
PMCID: PMC3665505  PMID: 19209086
Syntaxin 17; melanoma; polymorphisms
19.  Genome-wide association study identifies novel loci predisposing to cutaneous melanoma† 
Human Molecular Genetics  2011;20(24):5012-5023.
We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 × 10−10). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma.
doi:10.1093/hmg/ddr415
PMCID: PMC3298855  PMID: 21926416
20.  Identification of IL6R and chromosome 11q13.5 as risk loci for asthma 
Lancet  2011;378(9795):1006-1014.
Background
We aimed to identify novel genetic variants affecting asthma risk, since these might provide novel insights into molecular mechanisms underlying asthma.
Methods
We performed a genome-wide association study (GWAS) in 2,669 physician-diagnosed asthmatics and 4,528 controls from Australia. Seven loci were prioritised for replication after combining our results with those from the GABRIEL consortium (n=26,475), and these were tested in an additional 25,358 independent samples from four in-silico cohorts. Quantitative multi-SNP scores of genetic load were constructed on the basis of results from the GABRIEL study and tested for association with asthma in our Australian GWAS dataset.
Findings
Two loci were confirmed to associate with asthma risk in the replication cohorts and reached genome-wide significance in the combined analysis of all available studies (n=57,800): rs4129267 (OR=1.09, combined P=2.4×10−8) in the interleukin-6 receptor gene (IL6R) and rs7130588 (OR=1.09, P=1.8×10−8) on chromosome 11q13.5 near the leucine-rich repeat containing 32 gene (LRRC32, also known as GARP). The 11q13.5 locus was significantly associated with atopic status among asthmatics (OR = 1.33, P = 7×10−4), suggesting that it is a risk factor for allergic but not non-allergic asthma. Multi-SNP association results are consistent with a highly polygenic contribution to asthma risk, including loci with weak effects that may be shared with other immune-related diseases, such as NDFIP1, HLA-B, LPP and BACH2.
Interpretation
The IL6R association further supports the hypothesis that cytokine signalling dysregulation affects asthma risk, and raises the possibility that an IL6R antagonist (tocilizumab) may be effective to treat the disease, perhaps in a genotype-dependent manner. Results for the 11q13.5 locus suggest that it directly increases the risk of allergic sensitisation which, in turn, increases the risk of subsequent development of asthma. Larger or more functionally focused studies are needed to characterise the many loci with modest effects that remain to be identified for asthma.
Funding
A full list of funding sources appears at the end of the paper.
doi:10.1016/S0140-6736(11)60874-X
PMCID: PMC3517659  PMID: 21907864
21.  First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip 
When a forensic DNA sample cannot be associated directly with a previously genotyped reference sample by standard short tandem repeat profiling, the investigation required for identifying perpetrators, victims, or missing persons can be both costly and time consuming. Here, we describe the outcome of a collaborative study using the Identitas Version 1 (v1) Forensic Chip, the first commercially available all-in-one tool dedicated to the concept of developing intelligence leads based on DNA. The chip allows parallel interrogation of 201,173 genome-wide autosomal, X-chromosomal, Y-chromosomal, and mitochondrial single nucleotide polymorphisms for inference of biogeographic ancestry, appearance, relatedness, and sex. The first assessment of the chip’s performance was carried out on 3,196 blinded DNA samples of varying quantities and qualities, covering a wide range of biogeographic origin and eye/hair coloration as well as variation in relatedness and sex. Overall, 95 % of the samples (N = 3,034) passed quality checks with an overall genotype call rate >90 % on variable numbers of available recorded trait information. Predictions of sex, direct match, and first to third degree relatedness were highly accurate. Chip-based predictions of biparental continental ancestry were on average ~94 % correct (further support provided by separately inferred patrilineal and matrilineal ancestry). Predictions of eye color were 85 % correct for brown and 70 % correct for blue eyes, and predictions of hair color were 72 % for brown, 63 % for blond, 58 % for black, and 48 % for red hair. From the 5 % of samples (N = 162) with <90 % call rate, 56 % yielded correct continental ancestry predictions while 7 % yielded sufficient genotypes to allow hair and eye color prediction. Our results demonstrate that the Identitas v1 Forensic Chip holds great promise for a wide range of applications including criminal investigations, missing person investigations, and for national security purposes.
Electronic supplementary material
The online version of this article (doi:10.1007/s00414-012-0788-1) contains supplementary material, which is available to authorized users.
doi:10.1007/s00414-012-0788-1
PMCID: PMC3631519  PMID: 23149900
DNA intelligence; Forensic DNA phenotyping; SNP; Prediction; Relatedness; Kinship; Ancestry; Eye color; Hair color; Sex
22.  Attention Deficit Hyperactivity Disorder in Australian Adults: Prevalence, Persistence, Conduct Problems and Disadvantage 
PLoS ONE  2012;7(10):e47404.
Background
The Prevalence and persistence of ADHD have not been described in young Australian adults and few studies have examined how conduct problems (CP) are associated with ADHD for this age group. We estimate lifetime and adult prevalence and persistence rates for three categories of ADHD for 3795 Australian adults, and indicate how career, health and childhood risk factors differ for people with ADHD symptoms and ADHD symptoms plus CP.
Methodology
Trained interviewers collected participant experience of ADHD, CP, education, employment, childhood experience, relationship and health variables. Three diagnostic definitions of ADHD used were (i) full DSM-IV criteria; (ii) excluding the age 7 onset criterion (no age criterion); (iii) participant experienced difficulties due to ADHD symptoms (problem symptoms).
Results
Prevalence rates in adulthood were 1.1%, 2.3% and 2.7% for each categorization respectively. Persistence of ADHD from childhood averaged across gender was 55.3% for full criteria, 50.3% with no age criterion and 40.2% for problem symptoms. ADHD symptoms were associated with parental conflict, poor health, being sexually assaulted during childhood, lower education, income loss and higher unemployment. The lifetime prevalence of conduct problems for adults with ADHD was 57.8% and 6.9% for adults without ADHD. The greatest disadvantage was experienced by participants with ADHD plus CP.
Conclusion
The persistence of ADHD into adulthood was greatest for participants meeting full diagnostic criteria and inattention was associated with the greatest loss of income and disadvantage. The disadvantage associated with conduct problems differed in severity and was relevant for a high proportion of adults with ADHD. Women but not men with ADHD reported more childhood adversity, possibly indicating varied etiology and treatment needs. The impact and treatment needs of adults with ADHD and CP and the report of sexual assault during childhood by women and men with ADHD also deserve further study.
doi:10.1371/journal.pone.0047404
PMCID: PMC3468512  PMID: 23071800
24.  Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA 
PLoS ONE  2012;7(9):e44008.
Rationale
Asthma has substantial morbidity and mortality and a strong genetic component, but identification of genetic risk factors is limited by availability of suitable studies.
Objectives
To test if population-based cohorts with self-reported physician-diagnosed asthma and genome-wide association (GWA) data could be used to validate known associations with asthma and identify novel associations.
Methods
The APCAT (Analysis in Population-based Cohorts of Asthma Traits) consortium consists of 1,716 individuals with asthma and 16,888 healthy controls from six European-descent population-based cohorts. We examined associations in APCAT of thirteen variants previously reported as genome-wide significant (P<5x10−8) and three variants reported as suggestive (P<5×10−7). We also searched for novel associations in APCAT (Stage 1) and followed-up the most promising variants in 4,035 asthmatics and 11,251 healthy controls (Stage 2). Finally, we conducted the first genome-wide screen for interactions with smoking or hay fever.
Main Results
We observed association in the same direction for all thirteen previously reported variants and nominally replicated ten of them. One variant that was previously suggestive, rs11071559 in RORA, now reaches genome-wide significance when combined with our data (P = 2.4×10−9). We also identified two genome-wide significant associations: rs13408661 near IL1RL1/IL18R1 (PStage1+Stage2 = 1.1x10−9), which is correlated with a variant recently shown to be associated with asthma (rs3771180), and rs9268516 in the HLA region (PStage1+Stage2 = 1.1x10−8), which appears to be independent of previously reported associations in this locus. Finally, we found no strong evidence for gene-environment interactions with smoking or hay fever status.
Conclusions
Population-based cohorts with simple asthma phenotypes represent a valuable and largely untapped resource for genetic studies of asthma.
doi:10.1371/journal.pone.0044008
PMCID: PMC3461045  PMID: 23028483
25.  META-ANALYSIS OF GENOME-WIDE ASSOCIATION STUDIES IDENTIFIES THREE NEW RISK LOCI FOR ATOPIC DERMATITIS 
Paternoster, Lavinia | Standl, Marie | Chen, Chih-Mei | Ramasamy, Adaikalavan | Bønnelykke, Klaus | Duijts, Liesbeth | Ferreira, Manuel A | Alves, Alexessander Couto | Thyssen, Jacob P | Albrecht, Eva | Baurecht, Hansjörg | Feenstra, Bjarke | Sleiman, Patrick MA | Hysi, Pirro | Warrington, Nicole M | Curjuric, Ivan | Myhre, Ronny | Curtin, John A | Groen-Blokhuis, Maria M | Kerkhof, Marjan | Sääf, Annika | Franke, Andre | Ellinghaus, David | Fölster-Holst, Regina | Dermitzakis, Emmanouil | Montgomery, Stephen B | Prokisch, Holger | Heim, Katharina | Hartikainen, Anna-Liisa | Pouta, Anneli | Pekkanen, Juha | Blakemore, Alexandra IF | Buxton, Jessica L | Kaakinen, Marika | Duffy, David L | Madden, Pamela A | Heath, Andrew C | Montgomery, Grant W | Thompson, Philip J | Matheson, Melanie C | Le Souëf, Peter | Pourcain, Beate St | Smith, George Davey | Henderson, John | Kemp, John P | Timpson, Nicholas J | Deloukas, Panos | Ring, Susan M | Wichmann, H-Erich | Müller-Nurasyid, Martina | Novak, Natalija | Klopp, Norman | Rodríguez, Elke | McArdle, Wendy | Linneberg, Allan | Menné, Torkil | Nohr, Ellen A | Hofman, Albert | Uitterlinden, André G | van Duijn, Cornélia M | Rivadeneira, Fernando | de Jongste, Johan C | van der Valk, Ralf JP | Wjst, Matthias | Jogi, Rain | Geller, Frank | Boyd, Heather A | Murray, Jeffrey C | Kim, Cecilia | Mentch, Frank | March, Michael | Mangino, Massimo | Spector, Tim D | Bataille, Veronique | Pennell, Craig E | Holt, Patrick G | Sly, Peter | Tiesler, Carla MT | Thiering, Elisabeth | Illig, Thomas | Imboden, Medea | Nystad, Wenche | Simpson, Angela | Hottenga, Jouke-Jan | Postma, Dirkje | Koppelman, Gerard H | Smit, Henriette A | Söderhäll, Cilla | Chawes, Bo | Kreiner-Møller, Eskil | Bisgaard, Hans | Melén, Erik | Boomsma, Dorret I | Custovic, Adnan | Jacobsson, Bo | Probst-Hensch, Nicole M | Palmer, Lyle J | Glass, Daniel | Hakonarson, Hakon | Melbye, Mads | Jarvis, Deborah L | Jaddoe, Vincent WV | Gieger, Christian | Strachan, David P | Martin, Nicholas G | Jarvelin, Marjo-Riitta | Heinrich, Joachim | Evans, David M | Weidinger, Stephan
Nature genetics  2011;44(2):187-192.
Atopic dermatitis (AD) is a common chronic skin disease with high heritability. Apart from filaggrin (FLG), the genes influencing AD are largely unknown. We conducted a genome-wide association meta-analysis of 5,606 cases and 20,565 controls from 16 population-based cohorts and followed up the ten most strongly associated novel markers in a further 5,419 cases and 19,833 controls from 14 studies. Three SNPs met genome-wide significance in the discovery and replication cohorts combined: rs479844 upstream of OVOL1 (OR=0.88, p=1.1×10−13) and rs2164983 near ACTL9 (OR=1.16, p=7.1×10−9), genes which have been implicated in epidermal proliferation and differentiation, as well as rs2897442 in KIF3A within the cytokine cluster on 5q31.1 (OR=1.11, p=3.8×10−8). We also replicated the FLG locus and two recently identified association signals at 11q13.5 (rs7927894, p=0.008) and 20q13.3 (rs6010620, p=0.002). Our results underline the importance of both epidermal barrier function and immune dysregulation in AD pathogenesis.
doi:10.1038/ng.1017
PMCID: PMC3272375  PMID: 22197932

Results 1-25 (42)