S Ripke, AR Sanders, KS Kendler, DF Levinson, P Sklar, PA Holmans, DY Lin, J Duan, RA Ophoff, OA Andreassen, E Scolnick, S Cichon, D St Clair, A Corvin, H Gurling, T Werge, D Rujescu, DH Blackwood, CN Pato, AK Malhotra, S Purcell, F Dudbridge, BM Neale, L Rossin, PM Visscher, D Posthuma, DM Ruderfer, A Fanous, H Stefansson, S Steinberg, BJ Mowry, V Golimbet, M De Hert, EG Jönsson, I Bitter, OP Pietiläinen, DA Collier, S Tosato, I Agartz, M Albus, M Alexander, RL Amdur, F Amin, N Bass, SE Bergen, DW Black, AD Børglum, MA Brown, R Bruggeman, NG Buccola, WF Byerley, W Cahn, RM Cantor, VJ Carr, SV Catts, K Choudhury, CR Cloninger, P Cormican, N Craddock, PA Danoy, S Datta, L de Haan, D Demontis, D Dikeos, S Djurovic, P Donnelly, G Donohoe, L Duong, S Dwyer, A Fink-Jensen, R Freedman, NB Freimer, M Friedl, L Georgieva, I Giegling, M Gill, B Glenthøj, S Godard, M Hamshere, M Hansen, T Hansen, AM Hartmann, FA Henskens, DM Hougaard, CM Hultman, A Ingason, AV Jablensky, KD Jakobsen, M Jay, G Jürgens, RS Kahn, MC Keller, G Kenis, E Kenny, Y Kim, GK Kirov, H Konnerth, B Konte, L Krabbendam, R Krasucki, VK Lasseter, C Laurent, J Lawrence, T Lencz, FB Lerer, KY Liang, P Lichtenstein, JA Lieberman, DH Linszen, J Lönnqvist, CM Loughland, AW Maclean, BS Maher, W Maier, J Mallet, P Malloy, M Mattheisen, M Mattingsdal, KA McGhee, JJ McGrath, A McIntosh, DE McLean, A McQuillin, I Melle, PT Michie, V Milanova, DW Morris, O Mors, PB Mortensen, V Moskvina, P Muglia, I Myin-Germeys, DA Nertney, G Nestadt, J Nielsen, I Nikolov, M Nordentoft, N Norton, MM Nöthen, CT O'Dushlaine, A Olincy, L Olsen, FA O'Neill, TF Orntoft, MJ Owen, C Pantelis, G Papadimitriou, MT Pato, L Peltonen, H Petursson, B Pickard, J Pimm, AE Pulver, V Puri, D Quested, EM Quinn, HB Rasmussen, JM Réthelyi, R Ribble, M Rietschel, BP Riley, M Ruggeri, U Schall, TG Schulze, SG Schwab, RJ Scott, J Shi, E Sigurdsson, JM Silverman, CC Spencer, K Stefansson, A Strange, E Strengman, TS Stroup, J Suvisaari, L Terenius, S Thirumalai, JH Thygesen, S Timm, D Toncheva, E van den Oord, J van Os, R van Winkel, J Veldink, D Walsh, AG Wang, D Wiersma, DB Wildenauer, HJ Williams, NM Williams, B Wormley, S Zammit, PF Sullivan, MC O'Donovan, MJ Daly, PV Gejman. Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium. Nat Genet.2011 Sep 18;43(10):969–76. doi: 10.1038/ng.940.
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)).