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)).