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1.  Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution 
Lindgren, Cecilia M. | Heid, Iris M. | Randall, Joshua C. | Lamina, Claudia | Steinthorsdottir, Valgerdur | Qi, Lu | Speliotes, Elizabeth K. | Thorleifsson, Gudmar | Willer, Cristen J. | Herrera, Blanca M. | Jackson, Anne U. | Lim, Noha | Scheet, Paul | Soranzo, Nicole | Amin, Najaf | Aulchenko, Yurii S. | Chambers, John C. | Drong, Alexander | Luan, Jian'an | Lyon, Helen N. | Rivadeneira, Fernando | Sanna, Serena | Timpson, Nicholas J. | Zillikens, M. Carola | Zhao, Jing Hua | Almgren, Peter | Bandinelli, Stefania | Bennett, Amanda J. | Bergman, Richard N. | Bonnycastle, Lori L. | Bumpstead, Suzannah J. | Chanock, Stephen J. | Cherkas, Lynn | Chines, Peter | Coin, Lachlan | Cooper, Cyrus | Crawford, Gabriel | Doering, Angela | Dominiczak, Anna | Doney, Alex S. F. | Ebrahim, Shah | Elliott, Paul | Erdos, Michael R. | Estrada, Karol | Ferrucci, Luigi | Fischer, Guido | Forouhi, Nita G. | Gieger, Christian | Grallert, Harald | Groves, Christopher J. | Grundy, Scott | Guiducci, Candace | Hadley, David | Hamsten, Anders | Havulinna, Aki S. | Hofman, Albert | Holle, Rolf | Holloway, John W. | Illig, Thomas | Isomaa, Bo | Jacobs, Leonie C. | Jameson, Karen | Jousilahti, Pekka | Karpe, Fredrik | Kuusisto, Johanna | Laitinen, Jaana | Lathrop, G. Mark | Lawlor, Debbie A. | Mangino, Massimo | McArdle, Wendy L. | Meitinger, Thomas | Morken, Mario A. | Morris, Andrew P. | Munroe, Patricia | Narisu, Narisu | Nordström, Anna | Nordström, Peter | Oostra, Ben A. | Palmer, Colin N. A. | Payne, Felicity | Peden, John F. | Prokopenko, Inga | Renström, Frida | Ruokonen, Aimo | Salomaa, Veikko | Sandhu, Manjinder S. | Scott, Laura J. | Scuteri, Angelo | Silander, Kaisa | Song, Kijoung | Yuan, Xin | Stringham, Heather M. | Swift, Amy J. | Tuomi, Tiinamaija | Uda, Manuela | Vollenweider, Peter | Waeber, Gerard | Wallace, Chris | Walters, G. Bragi | Weedon, Michael N. | Witteman, Jacqueline C. M. | Zhang, Cuilin | Zhang, Weihua | Caulfield, Mark J. | Collins, Francis S. | Davey Smith, George | Day, Ian N. M. | Franks, Paul W. | Hattersley, Andrew T. | Hu, Frank B. | Jarvelin, Marjo-Riitta | Kong, Augustine | Kooner, Jaspal S. | Laakso, Markku | Lakatta, Edward | Mooser, Vincent | Morris, Andrew D. | Peltonen, Leena | Samani, Nilesh J. | Spector, Timothy D. | Strachan, David P. | Tanaka, Toshiko | Tuomilehto, Jaakko | Uitterlinden, André G. | van Duijn, Cornelia M. | Wareham, Nicholas J. | Watkins for the PROCARDIS consortia, Hugh | Waterworth, Dawn M. | Boehnke, Michael | Deloukas, Panos | Groop, Leif | Hunter, David J. | Thorsteinsdottir, Unnur | Schlessinger, David | Wichmann, H.-Erich | Frayling, Timothy M. | Abecasis, Gonçalo R. | Hirschhorn, Joel N. | Loos, Ruth J. F. | Stefansson, Kari | Mohlke, Karen L. | Barroso, Inês | McCarthy for the GIANT consortium, Mark I.
PLoS Genetics  2009;5(7):10.1371/annotation/b6e8f9f6-2496-4a40-b0e3-e1d1390c1928.
doi:10.1371/annotation/b6e8f9f6-2496-4a40-b0e3-e1d1390c1928
PMCID: PMC2722420
2.  Six new loci associated with body mass index highlight a neuronal influence on body weight regulation 
Willer, Cristen J | Speliotes, Elizabeth K | Loos, Ruth J F | Li, Shengxu | Lindgren, Cecilia M | Heid, Iris M | Berndt, Sonja I | Elliott, Amanda L | Jackson, Anne U | Lamina, Claudia | Lettre, Guillaume | Lim, Noha | Lyon, Helen N | McCarroll, Steven A | Papadakis, Konstantinos | Qi, Lu | Randall, Joshua C | Roccasecca, Rosa Maria | Sanna, Serena | Scheet, Paul | Weedon, Michael N | Wheeler, Eleanor | Zhao, Jing Hua | Jacobs, Leonie C | Prokopenko, Inga | Soranzo, Nicole | Tanaka, Toshiko | Timpson, Nicholas J | Almgren, Peter | Bennett, Amanda | Bergman, Richard N | Bingham, Sheila A | Bonnycastle, Lori L | Brown, Morris | Burtt, Noël P | Chines, Peter | Coin, Lachlan | Collins, Francis S | Connell, John M | Cooper, Cyrus | Smith, George Davey | Dennison, Elaine M | Deodhar, Parimal | Elliott, Paul | Erdos, Michael R | Estrada, Karol | Evans, David M | Gianniny, Lauren | Gieger, Christian | Gillson, Christopher J | Guiducci, Candace | Hackett, Rachel | Hadley, David | Hall, Alistair S | Havulinna, Aki S | Hebebrand, Johannes | Hofman, Albert | Isomaa, Bo | Jacobs, Kevin B | Johnson, Toby | Jousilahti, Pekka | Jovanovic, Zorica | Khaw, Kay-Tee | Kraft, Peter | Kuokkanen, Mikko | Kuusisto, Johanna | Laitinen, Jaana | Lakatta, Edward G | Luan, Jian'an | Luben, Robert N | Mangino, Massimo | McArdle, Wendy L | Meitinger, Thomas | Mulas, Antonella | Munroe, Patricia B | Narisu, Narisu | Ness, Andrew R | Northstone, Kate | O'Rahilly, Stephen | Purmann, Carolin | Rees, Matthew G | Ridderstråle, Martin | Ring, Susan M | Rivadeneira, Fernando | Ruokonen, Aimo | Sandhu, Manjinder S | Saramies, Jouko | Scott, Laura J | Scuteri, Angelo | Silander, Kaisa | Sims, Matthew A | Song, Kijoung | Stephens, Jonathan | Stevens, Suzanne | Stringham, Heather M | Tung, Y C Loraine | Valle, Timo T | Van Duijn, Cornelia M | Vimaleswaran, Karani S | Vollenweider, Peter | Waeber, Gerard | Wallace, Chris | Watanabe, Richard M | Waterworth, Dawn M | Watkins, Nicholas | Witteman, Jacqueline C M | Zeggini, Eleftheria | Zhai, Guangju | Zillikens, M Carola | Altshuler, David | Caulfield, Mark J | Chanock, Stephen J | Farooqi, I Sadaf | Ferrucci, Luigi | Guralnik, Jack M | Hattersley, Andrew T | Hu, Frank B | Jarvelin, Marjo-Riitta | Laakso, Markku | Mooser, Vincent | Ong, Ken K | Ouwehand, Willem H | Salomaa, Veikko | Samani, Nilesh J | Spector, Timothy D | Tuomi, Tiinamaija | Tuomilehto, Jaakko | Uda, Manuela | Uitterlinden, André G | Wareham, Nicholas J | Deloukas, Panagiotis | Frayling, Timothy M | Groop, Leif C | Hayes, Richard B | Hunter, David J | Mohlke, Karen L | Peltonen, Leena | Schlessinger, David | Strachan, David P | Wichmann, H-Erich | McCarthy, Mark I | Boehnke, Michael | Barroso, Inês | Abecasis, Gonçalo R | Hirschhorn, Joel N
Nature genetics  2008;41(1):25-34.
Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 × 10−8): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
doi:10.1038/ng.287
PMCID: PMC2695662  PMID: 19079261
3.  Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution 
Lindgren, Cecilia M. | Heid, Iris M. | Randall, Joshua C. | Lamina, Claudia | Steinthorsdottir, Valgerdur | Qi, Lu | Speliotes, Elizabeth K. | Thorleifsson, Gudmar | Willer, Cristen J. | Herrera, Blanca M. | Jackson, Anne U. | Lim, Noha | Scheet, Paul | Soranzo, Nicole | Amin, Najaf | Aulchenko, Yurii S. | Chambers, John C. | Drong, Alexander | Luan, Jian'an | Lyon, Helen N. | Rivadeneira, Fernando | Sanna, Serena | Timpson, Nicholas J. | Zillikens, M. Carola | Zhao, Jing Hua | Almgren, Peter | Bandinelli, Stefania | Bennett, Amanda J. | Bergman, Richard N. | Bonnycastle, Lori L. | Bumpstead, Suzannah J. | Chanock, Stephen J. | Cherkas, Lynn | Chines, Peter | Coin, Lachlan | Cooper, Cyrus | Crawford, Gabriel | Doering, Angela | Dominiczak, Anna | Doney, Alex S. F. | Ebrahim, Shah | Elliott, Paul | Erdos, Michael R. | Estrada, Karol | Ferrucci, Luigi | Fischer, Guido | Forouhi, Nita G. | Gieger, Christian | Grallert, Harald | Groves, Christopher J. | Grundy, Scott | Guiducci, Candace | Hadley, David | Hamsten, Anders | Havulinna, Aki S. | Hofman, Albert | Holle, Rolf | Holloway, John W. | Illig, Thomas | Isomaa, Bo | Jacobs, Leonie C. | Jameson, Karen | Jousilahti, Pekka | Karpe, Fredrik | Kuusisto, Johanna | Laitinen, Jaana | Lathrop, G. Mark | Lawlor, Debbie A. | Mangino, Massimo | McArdle, Wendy L. | Meitinger, Thomas | Morken, Mario A. | Morris, Andrew P. | Munroe, Patricia | Narisu, Narisu | Nordström, Anna | Nordström, Peter | Oostra, Ben A. | Palmer, Colin N. A. | Payne, Felicity | Peden, John F. | Prokopenko, Inga | Renström, Frida | Ruokonen, Aimo | Salomaa, Veikko | Sandhu, Manjinder S. | Scott, Laura J. | Scuteri, Angelo | Silander, Kaisa | Song, Kijoung | Yuan, Xin | Stringham, Heather M. | Swift, Amy J. | Tuomi, Tiinamaija | Uda, Manuela | Vollenweider, Peter | Waeber, Gerard | Wallace, Chris | Walters, G. Bragi | Weedon, Michael N. | Witteman, Jacqueline C. M. | Zhang, Cuilin | Zhang, Weihua | Caulfield, Mark J. | Collins, Francis S. | Davey Smith, George | Day, Ian N. M. | Franks, Paul W. | Hattersley, Andrew T. | Hu, Frank B. | Jarvelin, Marjo-Riitta | Kong, Augustine | Kooner, Jaspal S. | Laakso, Markku | Lakatta, Edward | Mooser, Vincent | Morris, Andrew D. | Peltonen, Leena | Samani, Nilesh J. | Spector, Timothy D. | Strachan, David P. | Tanaka, Toshiko | Tuomilehto, Jaakko | Uitterlinden, André G. | van Duijn, Cornelia M. | Wareham, Nicholas J. | Watkins for the PROCARDIS consortia, Hugh | Waterworth, Dawn M. | Boehnke, Michael | Deloukas, Panos | Groop, Leif | Hunter, David J. | Thorsteinsdottir, Unnur | Schlessinger, David | Wichmann, H.-Erich | Frayling, Timothy M. | Abecasis, Gonçalo R. | Hirschhorn, Joel N. | Loos, Ruth J. F. | Stefansson, Kari | Mohlke, Karen L. | Barroso, Inês | McCarthy for the GIANT consortium, Mark I. | Allison, David B.
PLoS Genetics  2009;5(6):e1000508.
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist–hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR) was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9×10−11) and MSRA (WC, P = 8.9×10−9). A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6×10−8). The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity.
Author Summary
Here, we describe a meta-analysis of genome-wide association data from 38,580 individuals, followed by large-scale replication (in up to 70,689 individuals) designed to uncover variants influencing anthropometric measures of central obesity and fat distribution, namely waist circumference (WC) and waist–hip ratio (WHR). This work complements parallel efforts that have been successful in defining variants impacting overall adiposity and focuses on the visceral fat accumulation which has particularly strong relationships to metabolic and cardiovascular disease. Our analyses have identified two loci (TFAP2B and MSRA) associated with WC, and a further locus, near LYPLAL1, which shows gender-specific relationships with WHR (all to levels of genome-wide significance). These loci vary in the strength of their associations with overall adiposity, and LYPLAL1 in particular appears to have a specific effect on patterns of fat distribution. All in all, these three loci provide novel insights into human physiology and the development of obesity.
doi:10.1371/journal.pgen.1000508
PMCID: PMC2695778  PMID: 19557161
4.  Common variants near MC4R are associated with fat mass, weight and risk of obesity 
Loos, Ruth J F | Lindgren, Cecilia M | Li, Shengxu | Wheeler, Eleanor | Zhao, Jing Hua | Prokopenko, Inga | Inouye, Michael | Freathy, Rachel M | Attwood, Antony P | Beckmann, Jacques S | Berndt, Sonja I | Bergmann, Sven | Bennett, Amanda J | Bingham, Sheila A | Bochud, Murielle | Brown, Morris | Cauchi, Stéphane | Connell, John M | Cooper, Cyrus | Smith, George Davey | Day, Ian | Dina, Christian | De, Subhajyoti | Dermitzakis, Emmanouil T | Doney, Alex S F | Elliott, Katherine S | Elliott, Paul | Evans, David M | Farooqi, I Sadaf | Froguel, Philippe | Ghori, Jilur | Groves, Christopher J | Gwilliam, Rhian | Hadley, David | Hall, Alistair S | Hattersley, Andrew T | Hebebrand, Johannes | Heid, Iris M | Herrera, Blanca | Hinney, Anke | Hunt, Sarah E | Jarvelin, Marjo-Riitta | Johnson, Toby | Jolley, Jennifer D M | Karpe, Fredrik | Keniry, Andrew | Khaw, Kay-Tee | Luben, Robert N | Mangino, Massimo | Marchini, Jonathan | McArdle, Wendy L | McGinnis, Ralph | Meyre, David | Munroe, Patricia B | Morris, Andrew D | Ness, Andrew R | Neville, Matthew J | Nica, Alexandra C | Ong, Ken K | O'Rahilly, Stephen | Owen, Katharine R | Palmer, Colin N A | Papadakis, Konstantinos | Potter, Simon | Pouta, Anneli | Qi, Lu | Randall, Joshua C | Rayner, Nigel W | Ring, Susan M | Sandhu, Manjinder S | Scherag, André | Sims, Matthew A | Song, Kijoung | Soranzo, Nicole | Speliotes, Elizabeth K | Syddall, Holly E | Teichmann, Sarah A | Timpson, Nicholas J | Tobias, Jonathan H | Uda, Manuela | Vogel, Carla I Ganz | Wallace, Chris | Waterworth, Dawn M | Weedon, Michael N | Willer, Cristen J | Wraight, Vicki L | Yuan, Xin | Zeggini, Eleftheria | Hirschhorn, Joel N | Strachan, David P | Ouwehand, Willem H | Caulfield, Mark J | Samani, Nilesh J | Frayling, Timothy M | Vollenweider, Peter | Waeber, Gerard | Mooser, Vincent | Deloukas, Panos | McCarthy, Mark I | Wareham, Nicholas J | Barroso, Inês | Jacobs, Kevin B | Chanock, Stephen J | Hayes, Richard B | Lamina, Claudia | Gieger, Christian | Illig, Thomas | Meitinger, Thomas | Wichmann, H-Erich | Kraft, Peter | Hankinson, Susan E | Hunter, David J | Hu, Frank B | Lyon, Helen N | Voight, Benjamin F | Ridderstrale, Martin | Groop, Leif | Scheet, Paul | Sanna, Serena | Abecasis, Goncalo R | Albai, Giuseppe | Nagaraja, Ramaiah | Schlessinger, David | Jackson, Anne U | Tuomilehto, Jaakko | Collins, Francis S | Boehnke, Michael | Mohlke, Karen L
Nature genetics  2008;40(6):768-775.
To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 × 10−6) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 × 10−15) and 5,988 children aged 7–11 (0.13 Z-score units; P = 1.5 × 10−8). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 × 10−11). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 × 10−4). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits.
doi:10.1038/ng.140
PMCID: PMC2669167  PMID: 18454148

Results 1-4 (4)