Guilt beyond a reasonable doubt

被引:105
作者
Altshuler, David [1 ]
Daly, Mark
机构
[1] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Boston, MA 02115 USA
[2] Harvard Univ, Broad Inst, Boston, MA 02115 USA
[3] MIT, Broad Inst, Boston, MA USA
关键词
GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY; VARIANTS; MULTIPLE; IL23R; LOCI; GENE;
D O I
10.1038/ng0707-813
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genome-wide association studies, exemplified by the Wellcome Trust Case Control Consortium and follow-up studies, have identified dozens of common variants robustly associated with common diseases, providing new clues about genetic architecture in humans. Finding all such loci, and fully defining genotype-phenotype correlation, will be a key to translating initial clues into pathophysiological understanding and clinical prediction.
引用
收藏
页码:813 / 815
页数:4
相关论文
共 15 条
[1]   Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].
Burton, Paul R. ;
Clayton, David G. ;
Cardon, Lon R. ;
Craddock, Nick ;
Deloukas, Panos ;
Duncanson, Audrey ;
Kwiatkowski, Dominic P. ;
McCarthy, Mark I. ;
Ouwehand, Willem H. ;
Samani, Nilesh J. ;
Todd, John A. ;
Donnelly, Peter ;
Barrett, Jeffrey C. ;
Davison, Dan ;
Easton, Doug ;
Evans, David ;
Leung, Hin-Tak ;
Marchini, Jonathan L. ;
Morris, Andrew P. ;
Spencer, Chris C. A. ;
Tobin, Martin D. ;
Attwood, Antony P. ;
Boorman, James P. ;
Cant, Barbara ;
Everson, Ursula ;
Hussey, Judith M. ;
Jolley, Jennifer D. ;
Knight, Alexandra S. ;
Koch, Kerstin ;
Meech, Elizabeth ;
Nutland, Sarah ;
Prowse, Christopher V. ;
Stevens, Helen E. ;
Taylor, Niall C. ;
Walters, Graham R. ;
Walker, Neil M. ;
Watkins, Nicholas A. ;
Winzer, Thilo ;
Jones, Richard W. ;
McArdle, Wendy L. ;
Ring, Susan M. ;
Strachan, David P. ;
Pembrey, Marcus ;
Breen, Gerome ;
St Clair, David ;
Caesar, Sian ;
Gordon-Smith, Katherine ;
Jones, Lisa ;
Fraser, Christine ;
Green, Elain K. .
NATURE, 2007, 447 (7145) :661-678
[2]   A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes [J].
Cargill, Michele ;
Schrodi, Steven J. ;
Chang, Monica ;
Garcia, Veronica E. ;
Brandon, Rhonda ;
Callis, Kristina P. ;
Matsunami, Nori ;
Ardlie, Kristin G. ;
Civello, Daniel ;
Catanese, Joseph J. ;
Leong, Diane U. ;
Panko, Jackie M. ;
McAllister, Linda B. ;
Hansen, Christopher B. ;
Papenfuss, Jason ;
Prescott, Stephen M. ;
White, Thomas J. ;
Leppert, Mark F. ;
Krueger, Gerald G. ;
Begovich, Ann B. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (02) :273-290
[3]   Replicating genotype-phenotype associations [J].
Chanock, Stephen J. ;
Manolio, Teri ;
Boehnke, Michael ;
Boerwinkle, Eric ;
Hunter, David J. ;
Thomas, Gilles ;
Hirschhorn, Joel N. ;
Abecasis, Goncalo ;
Altshuler, David ;
Bailey-Wilson, Joan E. ;
Brooks, Lisa D. ;
Cardon, Lon R. ;
Daly, Mark ;
Donnelly, Peter ;
Fraumeni, Joseph F., Jr. ;
Freimer, Nelson B. ;
Gerhard, Daniela S. ;
Gunter, Chris ;
Guttmacher, Alan E. ;
Guyer, Mark S. ;
Harris, Emily L. ;
Hoh, Josephine ;
Hoover, Robert ;
Kong, C. Augustine ;
Merikangas, Kathleen R. ;
Morton, Cynthia C. ;
Palmer, Lyle J. ;
Phimister, Elizabeth G. ;
Rice, John P. ;
Roberts, Jerry ;
Rotimi, Charles ;
Tucker, Margaret A. ;
Vogan, Kyle J. ;
Wacholder, Sholom ;
Wijsman, Ellen M. ;
Winn, Deborah M. ;
Collins, Francis S. .
NATURE, 2007, 447 (7145) :655-660
[4]   A genome-wide association study identifies IL23R as an inflammatory bowel disease gene [J].
Duerr, Richard H. ;
Taylor, Kent D. ;
Brant, Steven R. ;
Rioux, John D. ;
Silverberg, Mark S. ;
Daly, Mark J. ;
Steinhart, A. Hillary ;
Abraham, Clara ;
Regueiro, Miguel ;
Griffiths, Anne ;
Dassopoulos, Themistocles ;
Bitton, Alain ;
Yang, Huiying ;
Targan, Stephan ;
Datta, Lisa Wu ;
Kistner, Emily O. ;
Schumm, L. Philip ;
Lee, Annette T. ;
Gregersen, Peter K. ;
Barmada, M. Michael ;
Rotter, Jerome I. ;
Nicolae, Dan L. ;
Cho, Judy H. .
SCIENCE, 2006, 314 (5804) :1461-1463
[5]  
Easton D.F., 2007, NATURE
[6]   Multiple regions within 8q24 independently affect risk for prostate cancer [J].
Haiman, Christopher A. ;
Patterson, Nick ;
Freedman, Matthew L. ;
Myers, Simon R. ;
Pike, Malcolm C. ;
Waliszewska, Alicja ;
Neubauer, Julie ;
Tandon, Arti ;
Schirmer, Christine ;
McDonald, Gavin J. ;
Greenway, Steven C. ;
Stram, Daniel O. ;
Le Marchand, Loic ;
Kolonel, Laurence N. ;
Frasco, Melissa ;
Wong, David ;
Pooler, Loreall C. ;
Ardlie, Kristin ;
Oakley-Girvan, Ingrid ;
Whittemore, Alice S. ;
Cooney, Kathleen A. ;
John, Esther M. ;
Ingles, Sue A. ;
Altshuler, David ;
Henderson, Brian E. ;
Reich, David .
NATURE GENETICS, 2007, 39 (05) :638-644
[7]   A common variant on chromosome 9p21 affects the risk of myocardial infarction [J].
Helgadottir, Anna ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Gretarsdottir, Solveig ;
Blondal, Thorarinn ;
Jonasdottir, Aslaug ;
Jonasdottir, Adalbjorg ;
Sigurdsson, Asgeir ;
Baker, Adam ;
Palsson, Arnar ;
Masson, Gisli ;
Gudbjartsson, Daniel F. ;
Magnusson, Kristinn P. ;
Andersen, Karl ;
Levey, Allan I. ;
Backman, Valgerdur M. ;
Matthiasdottir, Sigurborg ;
Jonsdottir, Thorbjorg ;
Palsson, Stefan ;
Einarsdottir, Helga ;
Gunnarsdottir, Steinunn ;
Gylfason, Arnaldur ;
Vaccarino, Viola ;
Hooper, W. Craig ;
Reilly, Muredach P. ;
Granger, Christopher B. ;
Austin, Harland ;
Rader, Daniel J. ;
Shah, Svati H. ;
Quyyumi, Arshed A. ;
Gulcher, Jeffrey R. ;
Thorgeirsson, Gudmundur ;
Thorsteinsdottir, Unnur ;
Kong, Augustine ;
Stefansson, Kari .
SCIENCE, 2007, 316 (5830) :1491-1493
[8]   A spectrum of PCSK9 Alleles contributes to plasma levels of low-density lipoprotein cholesterol [J].
Kotowski, IK ;
Pertsemlidis, A ;
Luke, A ;
Cooper, RS ;
Vega, GL ;
Cohen, JC ;
Hobbs, HH .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (03) :410-422
[9]   A common allele on chromosome 9 associated with coronary heart disease [J].
McPherson, Ruth ;
Pertsemlidis, Alexander ;
Kavaslar, Nihan ;
Stewart, Alexandre F. R. ;
Roberts, Robert ;
Cox, David R. ;
Hinds, David A. ;
Pennacchio, Len A. ;
Tybjaerg-Hansen, Anne ;
Folsom, Aaron R. ;
Boerwinkle, Eric ;
Hobbs, Helen H. ;
Cohen, Jonathan C. .
SCIENCE, 2007, 316 (5830) :1488-1491
[10]   Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility [J].
Parkes, Miles ;
Barrett, Jeffrey C. ;
Prescott, Natalie J. ;
Tremelling, Mark ;
Anderson, Carl A. ;
Fisher, Sheila A. ;
Roberts, Roland G. ;
Nimmo, Elaine R. ;
Cummings, Fraser R. ;
Soars, Dianne ;
Drummond, Hazel ;
Lees, Charlie W. ;
Khawaja, Saud A. ;
Bagnall, Richard ;
Burke, Denis A. ;
Todhunter, Catherine E. ;
Ahmad, Tariq ;
Onnie, Clive M. ;
McArdle, Wendy ;
Strachan, David ;
Bethel, Graeme ;
Bryan, Claire ;
Lewis, Cathryn M. ;
Deloukas, Panos ;
Forbes, Alastair ;
Sanderson, Jeremy ;
Jewell, Derek P. ;
Satsangi, Jack ;
Mansfield, John C. ;
Cardon, Lon ;
Mathew, Christopher G. .
NATURE GENETICS, 2007, 39 (07) :830-832