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1.  Newly identified loci that influence lipid concentrations and risk of coronary artery disease 
Nature genetics  2008;40(2):161-169.
To identify genetic variants influencing plasma lipid concentrations, we first used genotype imputation and meta-analysis to combine three genome-wide scans totaling 8,816 individuals and comprising 6,068 individuals specific to our study (1,874 individuals from the FUSION study of type 2 diabetes and 4,184 individuals from the SardiNIA study of aging-associated variables) and 2,758 individuals from the Diabetes Genetics Initiative, reported in a companion study in this issue. We subsequently examined promising signals in 11,569 additional individuals. Overall, we identify strongly associated variants in eleven loci previously implicated in lipid metabolism (ABCA1, the APOA5-APOA4-APOC3-APOA1 and APOE-APOC clusters, APOB, CETP, GCKR, LDLR, LPL, LIPC, LIPG and PCSK9) and also in several newly identified loci (near MVK-MMAB and GALNT2, with variants primarily associated with high-density lipoprotein (HDL) cholesterol; near SORT1, with variants primarily associated with low-density lipoprotein (LDL) cholesterol; near TRIB1, MLXIPL and ANGPTL3, with variants primarily associated with triglycerides; and a locus encompassing several genes near NCAN, with variants strongly associated with both triglycerides and LDL cholesterol). Notably, the 11 independent variants associated with increased LDL cholesterol concentrations in our study also showed increased frequency in a sample of coronary artery disease cases versus controls.
doi:10.1038/ng.76
PMCID: PMC5206900  PMID: 18193043
2.  A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape 
Ried, Janina S. | Jeff M., Janina | Chu, Audrey Y. | Bragg-Gresham, Jennifer L. | van Dongen, Jenny | Huffman, Jennifer E. | Ahluwalia, Tarunveer S. | Cadby, Gemma | Eklund, Niina | Eriksson, Joel | Esko, Tõnu | Feitosa, Mary F. | Goel, Anuj | Gorski, Mathias | Hayward, Caroline | Heard-Costa, Nancy L. | Jackson, Anne U. | Jokinen, Eero | Kanoni, Stavroula | Kristiansson, Kati | Kutalik, Zoltán | Lahti, Jari | Luan, Jian'an | Mägi, Reedik | Mahajan, Anubha | Mangino, Massimo | Medina-Gomez, Carolina | Monda, Keri L. | Nolte, Ilja M. | Pérusse, Louis | Prokopenko, Inga | Qi, Lu | Rose, Lynda M. | Salvi, Erika | Smith, Megan T. | Snieder, Harold | Stančáková, Alena | Ju Sung, Yun | Tachmazidou, Ioanna | Teumer, Alexander | Thorleifsson, Gudmar | van der Harst, Pim | Walker, Ryan W. | Wang, Sophie R. | Wild, Sarah H. | Willems, Sara M. | Wong, Andrew | Zhang, Weihua | Albrecht, Eva | Couto Alves, Alexessander | Bakker, Stephan J. L. | Barlassina, Cristina | Bartz, Traci M. | Beilby, John | Bellis, Claire | Bergman, Richard N. | Bergmann, Sven | Blangero, John | Blüher, Matthias | Boerwinkle, Eric | Bonnycastle, Lori L. | Bornstein, Stefan R. | Bruinenberg, Marcel | Campbell, Harry | Chen, Yii-Der Ida | Chiang, Charleston W. K. | Chines, Peter S. | Collins, Francis S | Cucca, Fracensco | Cupples, L Adrienne | D'Avila, Francesca | de Geus, Eco J .C. | Dedoussis, George | Dimitriou, Maria | Döring, Angela | Eriksson, Johan G. | Farmaki, Aliki-Eleni | Farrall, Martin | Ferreira, Teresa | Fischer, Krista | Forouhi, Nita G. | Friedrich, Nele | Gjesing, Anette Prior | Glorioso, Nicola | Graff, Mariaelisa | Grallert, Harald | Grarup, Niels | Gräßler, Jürgen | Grewal, Jagvir | Hamsten, Anders | Harder, Marie Neergaard | Hartman, Catharina A. | Hassinen, Maija | Hastie, Nicholas | Hattersley, Andrew Tym | Havulinna, Aki S. | Heliövaara, Markku | Hillege, Hans | Hofman, Albert | Holmen, Oddgeir | Homuth, Georg | Hottenga, Jouke-Jan | Hui, Jennie | Husemoen, Lise Lotte | Hysi, Pirro G. | Isaacs, Aaron | Ittermann, Till | Jalilzadeh, Shapour | James, Alan L. | Jørgensen, Torben | Jousilahti, Pekka | Jula, Antti | Marie Justesen, Johanne | Justice, Anne E. | Kähönen, Mika | Karaleftheri, Maria | Tee Khaw, Kay | Keinanen-Kiukaanniemi, Sirkka M. | Kinnunen, Leena | Knekt, Paul B. | Koistinen, Heikki A. | Kolcic, Ivana | Kooner, Ishminder K. | Koskinen, Seppo | Kovacs, Peter | Kyriakou, Theodosios | Laitinen, Tomi | Langenberg, Claudia | Lewin, Alexandra M. | Lichtner, Peter | Lindgren, Cecilia M. | Lindström, Jaana | Linneberg, Allan | Lorbeer, Roberto | Lorentzon, Mattias | Luben, Robert | Lyssenko, Valeriya | Männistö, Satu | Manunta, Paolo | Leach, Irene Mateo | McArdle, Wendy L. | Mcknight, Barbara | Mohlke, Karen L. | Mihailov, Evelin | Milani, Lili | Mills, Rebecca | Montasser, May E. | Morris, Andrew P. | Müller, Gabriele | Musk, Arthur W. | Narisu, Narisu | Ong, Ken K. | Oostra, Ben A. | Osmond, Clive | Palotie, Aarno | Pankow, James S. | Paternoster, Lavinia | Penninx, Brenda W. | Pichler, Irene | Pilia, Maria G. | Polašek, Ozren | Pramstaller, Peter P. | Raitakari, Olli T | Rankinen, Tuomo | Rao, D. C. | Rayner, Nigel W. | Ribel-Madsen, Rasmus | Rice, Treva K. | Richards, Marcus | Ridker, Paul M. | Rivadeneira, Fernando | Ryan, Kathy A. | Sanna, Serena | Sarzynski, Mark A. | Scholtens, Salome | Scott, Robert A. | Sebert, Sylvain | Southam, Lorraine | Sparsø, Thomas Hempel | Steinthorsdottir, Valgerdur | Stirrups, Kathleen | Stolk, Ronald P. | Strauch, Konstantin | Stringham, Heather M. | Swertz, Morris A. | Swift, Amy J. | Tönjes, Anke | Tsafantakis, Emmanouil | van der Most, Peter J. | Van Vliet-Ostaptchouk, Jana V. | Vandenput, Liesbeth | Vartiainen, Erkki | Venturini, Cristina | Verweij, Niek | Viikari, Jorma S. | Vitart, Veronique | Vohl, Marie-Claude | Vonk, Judith M. | Waeber, Gérard | Widén, Elisabeth | Willemsen, Gonneke | Wilsgaard, Tom | Winkler, Thomas W. | Wright, Alan F. | Yerges-Armstrong, Laura M. | Hua Zhao, Jing | Carola Zillikens, M. | Boomsma, Dorret I. | Bouchard, Claude | Chambers, John C. | Chasman, Daniel I. | Cusi, Daniele | Gansevoort, Ron T. | Gieger, Christian | Hansen, Torben | Hicks, Andrew A. | Hu, Frank | Hveem, Kristian | Jarvelin, Marjo-Riitta | Kajantie, Eero | Kooner, Jaspal S. | Kuh, Diana | Kuusisto, Johanna | Laakso, Markku | Lakka, Timo A. | Lehtimäki, Terho | Metspalu, Andres | Njølstad, Inger | Ohlsson, Claes | Oldehinkel, Albertine J. | Palmer, Lyle J. | Pedersen, Oluf | Perola, Markus | Peters, Annette | Psaty, Bruce M. | Puolijoki, Hannu | Rauramaa, Rainer | Rudan, Igor | Salomaa, Veikko | Schwarz, Peter E. H. | Shudiner, Alan R. | Smit, Jan H. | Sørensen, Thorkild I. A. | Spector, Timothy D. | Stefansson, Kari | Stumvoll, Michael | Tremblay, Angelo | Tuomilehto, Jaakko | Uitterlinden, André G. | Uusitupa, Matti | Völker, Uwe | Vollenweider, Peter | Wareham, Nicholas J. | Watkins, Hugh | Wilson, James F. | Zeggini, Eleftheria | Abecasis, Goncalo R. | Boehnke, Michael | Borecki, Ingrid B. | Deloukas, Panos | van Duijn, Cornelia M. | Fox, Caroline | Groop, Leif C. | Heid, Iris M. | Hunter, David J. | Kaplan, Robert C. | McCarthy, Mark I. | North, Kari E. | O'Connell, Jeffrey R. | Schlessinger, David | Thorsteinsdottir, Unnur | Strachan, David P. | Frayling, Timothy | Hirschhorn, Joel N. | Müller-Nurasyid, Martina | Loos, Ruth J. F.
Nature Communications  2016;7:13357.
Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
Past genome-wide associate studies have identified hundreds of genetic loci that influence body size and shape when examined one trait at a time. Here, Jeff and colleagues develop an aggregate score of various body traits, and use meta-analysis to find new loci linked to body shape.
doi:10.1038/ncomms13357
PMCID: PMC5114527  PMID: 27876822
3.  Intentional Infection of Vulnerable Populations in 1946–1948 
Jama  2010;304(18):2063-2064.
doi:10.1001/jama.2010.1554
PMCID: PMC5101926  PMID: 20937719
4.  Faces of the Genome 
Science (New York, N.y.)  2011;331(6017):546.
doi:10.1126/science.1202894
PMCID: PMC5101927  PMID: 21292963
5.  Has the revolution arrived? 
Nature  2010;464(7289):674-675.
Looking back over the past decade of human genomics, Francis Collins finds five key lessons for the future of personalized medicine — for technology, policy, partnerships and pharmacogenomics.
doi:10.1038/464674a
PMCID: PMC5101928  PMID: 20360716
6.  A Major Environmental Cause of Death 
Science (New York, N.y.)  2011;334(6053):180-181.
Exposure to indoor air pollution from household burning and solid fuels affects nearly half of the world’s population.
doi:10.1126/science.1213088
PMCID: PMC5101929  PMID: 21998373
7.  In Support of SUPPORT — A View from the NIH 
The New England Journal of Medicine  2013;368(25):2349-2351.
doi:10.1056/NEJMp1306986
PMCID: PMC5101930  PMID: 23738511
8.  Developing Health Workforce Capacity in Africa 
Science (New York, N.y.)  2010;330(6009):1324-1325.
In Africa, programs to improve health will require major investments in institutions that can train and retain health professionals.
doi:10.1126/science.1199930
PMCID: PMC5101931  PMID: 21127233
9.  Network News: Powering Clinical Research 
Science Translational Medicine  2013;5(182):182fs13.
The Patient-Centered Outcomes Research Institute announces bold plans to build a National Patient-Centered Clinical Research Network that will unite millions of patients through a coordinated collaboration with researchers and health care delivery organizations.
doi:10.1126/scitranslmed.3006298
PMCID: PMC5101932  PMID: 23612587
10.  NIH Roadmap/Common Fund at 10 Years 
Science (New York, N.y.)  2014;345(6194):274-276.
A mechanism for funding biomedical research at NIH that transcends Institute and Center boundaries is bearing fruit
doi:10.1126/science.1255860
PMCID: PMC5101933  PMID: 25035478
11.  Mining for therapeutic gold 
A comprehensive and collaborative strategy to enable the investigation of new uses of approved and abandoned drug compounds could advance translational research.
doi:10.1038/nrd3461
PMCID: PMC5101935  PMID: 21629277
13.  Exceptional Opportunities in Medical Science 
Jama  2015;313(2):131-132.
doi:10.1001/jama.2014.16736
PMCID: PMC5101937  PMID: 25585318
14.  A New Initiative on Precision Medicine 
The New England Journal of Medicine  2015;372(9):793-795.
President Obama has announced a research initiative that aims to accelerate progress toward a new era of precision medicine, with a near-term focus on cancers and a longer-term aim to generate knowledge applicable to the whole range of health and disease.
doi:10.1056/NEJMp1500523
PMCID: PMC5101938  PMID: 25635347
15.  Seeking a Cure for One of the Rarest Diseases: Progeria 
Circulation  2016;134(2):126-129.
doi:10.1161/CIRCULATIONAHA.116.022965
PMCID: PMC5101939  PMID: 27400897
Editorials; everolimus; lamin type A; lonafarnib; morpholinos; progeria; rare diseases; translational medical research
16.  Reengineering Translational Science: The Time Is Right 
Science Translational Medicine  2011;3(90):90cm17.
Despite dramatic advances in the molecular pathogenesis of disease, translation of basic biomedical research into safe and effective clinical applications remains a slow, expensive, and failure-prone endeavor. To pursue opportunities for disruptive translational innovation, the U.S. National Institutes of Health (NIH) intends to establish a new entity, the National Center for Advancing Translational Sciences (NCATS). The mission of NCATS is to catalyze the generation of innovative methods and technologies that will enhance the development, testing, and implementation of diagnostics and therapeutics across a wide range of diseases and conditions. The new center’s activities will complement, and not compete with, translational research being carried out at NIH and elsewhere in the public and private sectors.
doi:10.1126/scitranslmed.3002747
PMCID: PMC5101940  PMID: 21734173
17.  Fixing problems with cell lines 
Science (New York, N.y.)  2014;346(6216):1452-1453.
doi:10.1126/science.1259110
PMCID: PMC5101941  PMID: 25525228
18.  The Next Generation of Obesity Research 
Jama  2012;308(11):1095-1096.
doi:10.1001/2012.jama.11853
PMCID: PMC5101942  PMID: 22990265
19.  Benefits and Risks of Influenza Research: Lessons Learned 
Science (New York, N.y.)  2012;336(6088):1522-1523.
Given the yearly challenge of seasonal influenza and the potential catastrophic consequences of future pandemics, the need for intensive basic and clinical influenza research is unquestionable. Although the fruits of decades of research have enabled dramatic improvements in our ability to prevent and treat influenza, many fundamental questions remain, including those related to the complex factors associated with host switching and transmission of influenza viruses. Recent public concern over two H5N1 influenza manuscripts that studied the transmissibility of influenza viruses has triggered intense discussion on dual-use research and the way forward.
doi:10.1126/science.1224305
PMCID: PMC5101943  PMID: 22723407
20.  Twenty-five years of big biology 
Nature  2015;526(7571):29-31.
The Human Genome Project, which launched a quarter of a century ago this week, still holds lessons for the consortium-based science it ushered in, say Eric D. Green, James D. Watson and Francis S. Collins.
doi:10.1038/526029a
PMCID: PMC5101944  PMID: 26432225
21.  The NIH BRAIN Initiative 
Science (New York, N.y.)  2013;340(6133):687-688.
The NIH BRAIN Initiative will build on recent successes in neuroscience to create and apply new tools for understanding brain activity.
doi:10.1126/science.1239276
PMCID: PMC5101945  PMID: 23661744
22.  Bringing the Common Rule into the 21st Century 
The New England Journal of Medicine  2015;373(24):2293-2296.
doi:10.1056/NEJMp1512205
PMCID: PMC5101946  PMID: 26509903
23.  Toward a New Era of Trust and Transparency in Clinical Trials 
Jama  2016;316(13):1353-1354.
doi:10.1001/jama.2016.14668
PMCID: PMC5101947  PMID: 27636028
24.  NIH to balance sex in cell and animal studies 
Nature  2014;509(7500):282-283.
Janine A. Clayton and Francis S. Collins unveil policies to ensure that preclinical research funded by the US National Institutes of Health considers females and males.
PMCID: PMC5101948  PMID: 24834516
25.  NIH push to stop sexual harassment 
Nature  2016;531(7592):35.
doi:10.1038/531035b
PMCID: PMC5101949  PMID: 26935689

Results 1-25 (151)