Genome-wide association study identifies five new schizophrenia loci

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Ripke, Stephan and Sanders, Alan R and Kendler, Kenneth S and Levinson, Douglas F and Sklar, Pamela and Holmans, Peter A and Lin, Dan-Yu and Duan, Jubao and Ophoff, Roel A and Andreassen, Ole A and Scolnick, Edward and Cichon, Sven and St Clair, David and Corvin, Aiden and Gurling, Hugh and Werge, Thomas and Rujescu, Dan and Blackwood, Douglas H R and Pato, Carlos N and Malhotra, Anil K and Purcell, Shaun and Dudbridge, Frank and Neale, Benjamin M and Rossin, Lizzy and Visscher, Peter M and Posthuma, Danielle and Ruderfer, Douglas M and Fanous, Ayman and Stefansson, Hreinn and Steinberg, Stacy and Mowry, Bryan J and Golimbet, Vera and De Hert, Marc and Jönsson, Erik G and Bitter, István and Pietiläinen, Olli P H and Collier, David A and Tosato, Sarah and Agartz, Ingrid and Albus, Margot and Alexander, Madeline and Amdur, Richard L and Amin, Farooq and Bass, Nicholas and Bergen, Sarah E and Black, Donald W and Børglum, Anders D and Brown, Matthew A and Bruggeman, Richard and Pickard, Ben, The Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011) Genome-wide association study identifies five new schizophrenia loci. Nature Genetics, 43 (10). pp. 969-976. (https://doi.org/10.1038/ng.940)

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Abstract

We examined the role of common genetic variation in schizophrenia in a genome-wide association study of substantial size: a stage 1 discovery sample of 21,856 individuals of European ancestry and a stage 2 replication sample of 29,839 independent subjects. The combined stage 1 and 2 analysis yielded genome-wide significant associations with schizophrenia for seven loci, five of which are new (1p21.3, 2q32.3, 8p23.2, 8q21.3 and 10q24.32-q24.33) and two of which have been previously implicated (6p21.32-p22.1 and 18q21.2). The strongest new finding (P = 1.6 × 10(-11)) was with rs1625579 within an intron of a putative primary transcript for MIR137 (microRNA 137), a known regulator of neuronal development. Four other schizophrenia loci achieving genome-wide significance contain predicted targets of MIR137, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia. In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)).

ORCID iDs

Ripke, Stephan, Sanders, Alan R, Kendler, Kenneth S, Levinson, Douglas F, Sklar, Pamela, Holmans, Peter A, Lin, Dan-Yu, Duan, Jubao, Ophoff, Roel A, Andreassen, Ole A, Scolnick, Edward, Cichon, Sven, St Clair, David, Corvin, Aiden, Gurling, Hugh, Werge, Thomas, Rujescu, Dan, Blackwood, Douglas H R, Pato, Carlos N, Malhotra, Anil K, Purcell, Shaun, Dudbridge, Frank, Neale, Benjamin M, Rossin, Lizzy, Visscher, Peter M, Posthuma, Danielle, Ruderfer, Douglas M, Fanous, Ayman, Stefansson, Hreinn, Steinberg, Stacy, Mowry, Bryan J, Golimbet, Vera, De Hert, Marc, Jönsson, Erik G, Bitter, István, Pietiläinen, Olli P H, Collier, David A, Tosato, Sarah, Agartz, Ingrid, Albus, Margot, Alexander, Madeline, Amdur, Richard L, Amin, Farooq, Bass, Nicholas, Bergen, Sarah E, Black, Donald W, Børglum, Anders D, Brown, Matthew A, Bruggeman, Richard and Pickard, Ben ORCID logoORCID: https://orcid.org/0000-0002-2374-6329;
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