Suggestion of roles for both common and rare risk variants in genome-wide studies of schizophrenia.
作者： Michael J. Owen , Nick Craddock , Michael C. O’Donovan
DOI: 10.1001/ARCHGENPSYCHIATRY.2010.69
关键词:
摘要: This article reviews recent genome-wide association studies (GWAS) of schizophrenia and considers future research directions. Until recently, scans for disease risk variants were based on linkage analysis, an approach that can detect only those alleles confer relatively large effects. The main alternative was the candidate gene study, which, although better powered than weak genetic effects, is problematic phenotypes where pathogenesis largely unknown. However, systematic searches across genome small effect are now possible thanks to development array platforms allowing hundreds thousands single-nucleotide polymorphisms (SNPs) be assayed, genotypes which strongly correlated though disequilibrium with a high proportion 10 million or so common SNPs in human genome. Such GWAS have identified loci at variation confers susceptibility many diseases other polygenic traits, 1,2 this will increase as more larger samples studied.
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sci-hub.se 参考文章(51)
Reich T, Rice J, Suarez Bk, O'Rourke Dh, Gottesman, Refutation of the general single-locus model for the etiology of schizophrenia. American Journal of Human Genetics. ,vol. 34, pp. 630- 649 ,(1982)
Nicholas John Craddock, Michael John Owen, Rethinking psychosis: the disadvantages of a dichotomous classification now outweigh the advantages World Psychiatry. ,vol. 6, pp. 84- 91 ,(2007)
Daniel R Hanson, Irving I Gottesman, Theories of schizophrenia: a genetic-inflammatory-vascular synthesis BMC Medical Genetics. ,vol. 6, pp. 7- 7 ,(2005) , 10.1186/1471-2350-6-7
M. McGue, I. I. Gottesman, D. C. Rao, M. Anne Spence, Resolving genetic models for the transmission of schizophrenia Genetic Epidemiology. ,vol. 2, pp. 99- 110 ,(1985) , 10.1002/GEPI.1370020110
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall, Anthony Leotta, Deepa Pai, Ray Zhang, Yoon-Ha Lee, James Hicks, Sarah J Spence, Annette T Lee, Kaija Puura, Terho Lehtimäki, David Ledbetter, Peter K Gregersen, Joel Bregman, James S Sutcliffe, Vaidehi Jobanputra, Wendy Chung, Dorothy Warburton, Mary-Claire King, David Skuse, Daniel H Geschwind, T Conrad Gilliam, Kenny Ye, Michael Wigler, None, Strong Association of De Novo Copy Number Mutations with Autism Science. ,vol. 316, pp. 445- 449 ,(2007) , 10.1126/SCIENCE.1138659
Bin Xu, J Louw Roos, Shawn Levy, E J van Rensburg, Joseph A Gogos, Maria Karayiorgou, Strong association of de novo copy number mutations with sporadic schizophrenia. Nature Genetics. ,vol. 40, pp. 880- 885 ,(2008) , 10.1038/NG.162
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
Anne S. Bassett, Eva W.C. Chow, Philip AbdelMalik, Mirona Gheorghiu, Janice Husted, Rosanna Weksberg, The schizophrenia phenotype in 22q11 deletion syndrome American Journal of Psychiatry. ,vol. 160, pp. 1580- 1586 ,(2003) , 10.1176/APPI.AJP.160.9.1580
David B. Goldstein, Common Genetic Variation and Human Traits The New England Journal of Medicine. ,vol. 360, pp. 1696- 1698 ,(2009) , 10.1056/NEJMP0806284
Thomas C. Südhof, Neuroligins and Neurexins Link Synaptic Function to Cognitive Disease Nature. ,vol. 455, pp. 903- 911 ,(2008) , 10.1038/NATURE07456