Progress and challenges in genome-wide association studies in humans

被引：244

作者：

Donnelly, Peter ^{[1
]}

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

来源：

NATURE | 2008年 / 456卷 / 7223期

关键词：

D O I：

10.1038/nature07631

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

After more than a decade of hope and hype, researchers are finally making inroads into understanding the genetic basis of many common human diseases. The use of genome- wide association studies has broken the logjam, enabling genetic variants at specific loci to be associated with particular diseases. Genetic association data are now providing new routes to understanding the aetiology of disease, as well as new footholds on the long and difficult path to better treatment and disease prevention.

引用

页码：728 / 731

页数：4

共 20 条

[1] Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease [J].

Barrett, Jeffrey C. ;

Hansoul, Sarah ;

Nicolae, Dan L. ;

Cho, Judy H. ;

Duerr, Richard H. ;

Rioux, John D. ;

Brant, Steven R. ;

Silverberg, Mark S. ;

Taylor, Kent D. ;

Barmada, M. Michael ;

Bitton, Alain ;

Dassopoulos, Themistocles ;

Datta, Lisa Wu ;

Green, Todd ;

Griffiths, Anne M. ;

Kistner, Emily O. ;

Murtha, Michael T. ;

Regueiro, Miguel D. ;

Rotter, Jerome I. ;

Schumm, L. Philip ;

Steinhart, A. Hillary ;

Targan, Stephan R. ;

Xavier, Ramnik J. ;

Libioulle, Cecile ;

Sandor, Cynthia ;

Lathrop, Mark ;

Belaiche, Jacques ;

Dewit, Olivier ;

Gut, Ivo ;

Heath, Simon ;

Laukens, Debby ;

Mni, Myriam ;

Rutgeerts, Paul ;

Van Gossum, Andre ;

Zelenika, Diana ;

Franchimont, Denis ;

Hugot, Jean-Pierre ;

de Vos, Martine ;

Vermeire, Severine ;

Louis, Edouard ;

Cardon, Lon R. ;

Anderson, Carl A. ;

Drummond, Hazel ;

Nimmo, Elaine ;

Ahmad, Tariq ;

Prescott, Natalie J. ;

Onnie, Clive M. ;

Fisher, Sheila A. ;

Marchini, Jonathan ;

Ghori, Jilur .

NATURE GENETICS, 2008, 40 (08) :955-962

[2] 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

[3] Newly identified loci highlight beta cell dysfunction as a key cause of type 2 diabetes: Where are the insulin resistance genes? [J].

Florez, J. C. .

DIABETOLOGIA, 2008, 51 (07) :1100-1110

[4] Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes [J].

Gudmundsson, Julius ;

Sulem, Patrick ;

Steinthorsdottir, Valgerdur ;

Bergthorsson, Jon T. ;

Thorleifsson, Gudmar ;

Manolescu, Andrei ;

Rafnar, Thorunn ;

Gudbjartsson, Daniel ;

Agnarsson, Bjarni A. ;

Baker, Adam ;

Sigurdsson, Asgeir ;

Benediktsdottir, Kristrun R. ;

Jakobsdottir, Margret ;

Blondal, Thorarinn ;

Stacey, Simon N. ;

Helgason, Agnar ;

Gunnarsdottir, Steinunn ;

Olafsdottir, Adalheidur ;

Kristinsson, Kari T. ;

Birgisdottir, Birgitta ;

Ghosh, Shyamali ;

Thorlacius, Steinunn ;

Magnusdottir, Dana ;

Stefansdottir, Gerdur ;

Kristjansson, Kristleifur ;

Bagger, Yu ;

Wilensky, Robert L. ;

Reilly, Muredach P. ;

Morris, Andrew D. ;

Kimber, Charlotte H. ;

Adeyemo, Adebowale ;

Chen, Yuanxiu ;

Zhou, Jie ;

So, Wing-Yee ;

Tong, Peter C. Y. ;

Ng, Maggie C. Y. ;

Hansen, Torben ;

Andersen, Gitte ;

Borch-Johnsen, Knut ;

Jorgensen, Torben ;

Tres, Alejandro ;

Fuertes, Fernando ;

Ruiz-Echarri, Manuel ;

Asin, Laura ;

Saez, Berta ;

van Boven, Erica ;

Klaver, Siem ;

Swinkels, Dorine W. ;

Aben, Katja K. ;

Graif, Theresa .

NATURE GENETICS, 2007, 39 (08) :977-983

[5] 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

[6] Newly identified genetic risk variants for celiac disease related to the immune response [J].

Hunt, Karen A. ;

Zhernakova, Alexandra ;

Turner, Graham ;

Heap, Graham A. R. ;

Franke, Lude ;

Bruinenberg, Marcel ;

Romanos, Jihane ;

Dinesen, Lotte C. ;

Ryan, Anthony W. ;

Panesar, Davinder ;

Gwilliam, Rhian ;

Takeuchi, Fumihiko ;

McLaren, William M. ;

Holmes, Geoffrey K. T. ;

Howdle, Peter D. ;

Walters, Julian R. F. ;

Sanders, David S. ;

Playford, Raymond J. ;

Trynka, Gosia ;

Mulder, Chris J. J. ;

Mearin, M. Luisa ;

Verbeek, Wieke H. M. ;

Trimble, Valerie ;

Stevens, Fiona M. ;

O'Morain, Colm ;

Kennedy, Nicholas P. ;

Kelleher, Dermot ;

Pennington, Daniel J. ;

Strachan, David P. ;

McArdle, Wendy L. ;

Mein, Charles A. ;

Wapenaar, Martin C. ;

Deloukas, Panos ;

McGinnis, Ralph ;

McManus, Ross ;

Wijmenga, Cisca ;

van Heel, David A. .

NATURE GENETICS, 2008, 40 (04) :395-402

[7] Identification of ten loci associated with height highlights new biological pathways in human growth [J].

Lettre, Guillaume ;

Jackson, Anne U. ;

Gieger, Christian ;

Schumacher, Fredrick R. ;

Berndt, Sonja I. ;

Sanna, Serena ;

Eyheramendy, Susana ;

Voight, Benjamin F. ;

Butler, Johannah L. ;

Guiducci, Candace ;

Illig, Thomas ;

Hackett, Rachel ;

Heid, Iris M. ;

Jacobs, Kevin B. ;

Lyssenko, Valeriya ;

Uda, Manuela ;

Boehnke, Michael ;

Chanock, Stephen J. ;

Groop, Leif C. ;

Hu, Frank B. ;

Isomaa, Bo ;

Kraft, Peter ;

Peltonen, Leena ;

Salomaa, Veikko ;

Schlessinger, David ;

Hunter, David J. ;

Hayes, Richard B. ;

Abecasis, Goncalo R. ;

Wichmann, H-Erich ;

Mohlke, Karen L. ;

Hirschhorn, Joel N. .

NATURE GENETICS, 2008, 40 (05) :584-591

[8] Personal genomes: The case of the missing heritability [J].

Maher, Brendan .

NATURE, 2008, 456 (7218) :18-21

[9] A HapMap harvest of insights into the genetics of common disease [J].

Manolio, Teri A. ;

Brooks, Lisa D. ;

Collins, Francis S. .

JOURNAL OF CLINICAL INVESTIGATION, 2008, 118 (05) :1590-1605

[10] Genome-wide association studies for complex traits: consensus, uncertainty and challenges [J].

McCarthy, Mark I. ;

Abecasis, Goncalo R. ;

Cardon, Lon R. ;

Goldstein, David B. ;

Little, Julian ;

Ioannidis, John P. A. ;

Hirschhorn, Joel N. .

NATURE REVIEWS GENETICS, 2008, 9 (05) :356-369

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