Genome-wide association studies: a primer.
作者： Aiden Corvin , Nick Craddock , Patrick F Sullivan , None
DOI: 10.1017/S0033291709991723
关键词: Genetics 、 Computational biology 、 Genetic variants 、 Psychiatric genetics 、 Genome-wide association study 、 Genetic association 、 Biology
摘要: There have been nearly 400 genome-wide association studies (GWAS) published since 2005. The GWAS approach has exceptionally successful in identifying common genetic variants that predispose to a variety of complex human diseases and biochemical anthropometric traits. Although this is relatively new, there are many excellent reviews different aspects the method. Here, we provide primer, an annotated overview method with particular reference psychiatric genetics. We dissect methodology into its components brief description citations links cover topic detail.
sci-hub.se 参考文章(51)
Kenneth J. Rothman, Sander Greenland, Timothy L. Lash, Case–Control Studies Encyclopedia of Quantitative Risk Analysis and Assessment. ,(2008) , 10.1002/9780470061596.RISK0599
Benjamin M. Neale, Shaun Purcell, The positives, protocols, and perils of genome-wide association. American Journal of Medical Genetics. ,vol. 147, pp. 1288- 1294 ,(2008) , 10.1002/AJMG.B.30747
K J Mitchell, D J Porteous, GWAS for psychiatric disease: is the framework built on a solid foundation? Molecular Psychiatry. ,vol. 14, pp. 740- 741 ,(2009) , 10.1038/MP.2009.17
Eleftheria Zeggini, Laura J Scott, Richa Saxena, Benjamin F Voight, Jonathan L Marchini, Tianle Hu, Paul IW de Bakker, Gonçalo R Abecasis, Peter Almgren, Gitte Andersen, Kristin Ardlie, Kristina Bengtsson Boström, Richard N Bergman, Lori L Bonnycastle, Knut Borch-Johnsen, Noël P Burtt, Hong Chen, Peter S Chines, Mark J Daly, Parimal Deodhar, Chia-Jen Ding, Alex SF Doney, William L Duren, Katherine S Elliott, Michael R Erdos, Timothy M Frayling, Rachel M Freathy, Lauren Gianniny, Harald Grallert, Niels Grarup, Christopher J Groves, Candace Guiducci, Torben Hansen, Christian Herder, Graham A Hitman, Thomas E Hughes, Bo Isomaa, Anne U Jackson, Torben Jørgensen, Augustine Kong, Kari Kubalanza, Finny G Kuruvilla, Johanna Kuusisto, Claudia Langenberg, Hana Lango, Torsten Lauritzen, Yun Li, Cecilia M Lindgren, Valeriya Lyssenko, Amanda F Marvelle, Christa Meisinger, Kristian Midthjell, Karen L Mohlke, Mario A Morken, Andrew D Morris, Narisu Narisu, Peter Nilsson, Katharine R Owen, Colin NA Palmer, Felicity Payne, John RB Perry, Elin Pettersen, Carl Platou, Inga Prokopenko, Lu Qi, Li Qin, Nigel W Rayner, Matthew Rees, Jeffrey J Roix, Anelli Sandbaek, Beverley Shields, Marketa Sjögren, Valgerdur Steinthorsdottir, Heather M Stringham, Amy J Swift, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Nicholas J Timpson, Tiinamaija Tuomi, Jaakko Tuomilehto, Mark Walker, Richard M Watanabe, Michael N Weedon, Cristen J Willer, Wellcome Trust Case Control Consortium, Thomas Illig, Kristian Hveem, Frank B Hu, Markku Laakso, Kari Stefansson, Oluf Pedersen, Nicholas J Wareham, Inês Barroso, Andrew T Hattersley, Francis S Collins, Leif Groop, Mark I McCarthy, Michael Boehnke, David Altshuler, None, Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes Nature Genetics. ,vol. 40, pp. 638- 645 ,(2008) , 10.1038/NG.120
David B. Goldstein, Common Genetic Variation and Human Traits The New England Journal of Medicine. ,vol. 360, pp. 1696- 1698 ,(2009) , 10.1056/NEJMP0806284
C. Esslinger, H. Walter, P. Kirsch, S. Erk, K. Schnell, C. Arnold, L. Haddad, D. Mier, C. Opitz von Boberfeld, K. Raab, S. H. Witt, M. Rietschel, S. Cichon, A. Meyer-Lindenberg, Neural mechanisms of a genome-wide supported psychosis variant. Science. ,vol. 324, pp. 605- 605 ,(2009) , 10.1126/SCIENCE.1167768
Peter Holmans, Elaine K. Green, Jaspreet Singh Pahwa, Manuel A.R. Ferreira, Shaun M. Purcell, Pamela Sklar, Michael J. Owen, Michael C. O'Donovan, Nick Craddock, Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder American Journal of Human Genetics. ,vol. 85, pp. 13- 24 ,(2009) , 10.1016/J.AJHG.2009.05.011
Stephen J Chanock, Teri Manolio, Michael Boehnke, Eric Boerwinkle, David J Hunter, Gilles Thomas, Joel N Hirschhorn, Gonçalo R Abecasis, David Altshuler, Joan E Bailey-Wilson, Lisa D Brooks, Lon R Cardon, Mark Daly, Peter Donnelly, Joseph F Fraumeni Jr, Nelson B Freimer, Daniela S Gerhard, Chris Gunter, Alan E Guttmacher, Mark S Guyer, Emily L Harris, Josephine Hoh, Robert Hoover, C Augustine Kong, Kathleen R Merikangas, Cynthia C Morton, Lyle J Palmer, Elizabeth G Phimister, John P Rice, Jerry Roberts, Charles Rotimi, Margaret A Tucker, Kyle J Vogan, Sholom Wacholder, Ellen M Wijsman, Deborah M Winn, Francis S Collins, Replicating genotype–phenotype associations Nature. ,vol. 447, pp. 655- 660 ,(2007) , 10.1038/447655A
Stephen W Scherer, Charles Lee, Ewan Birney, David M Altshuler, Evan E Eichler, Nigel P Carter, Matthew E Hurles, Lars Feuk, Challenges and standards in integrating surveys of structural variation. Nature Genetics. ,vol. 39, ,(2007) , 10.1038/NG2093
Jianxin Shi, Douglas F. Levinson, Jubao Duan, Alan R. Sanders, Yonglan Zheng, Itsik Pe’er, Frank Dudbridge, Peter A. Holmans, Alice S. Whittemore, Bryan J. Mowry, Ann Olincy, Farooq Amin, C. Robert Cloninger, Jeremy M. Silverman, Nancy G. Buccola, William F. Byerley, Donald W. Black, Raymond R. Crowe, Jorge R. Oksenberg, Daniel B. Mirel, Kenneth S. Kendler, Robert Freedman, Pablo V. Gejman, Common variants on chromosome 6p22.1 are associated with schizophrenia Nature. ,vol. 460, pp. 753- 757 ,(2009) , 10.1038/NATURE08192