Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2

Abstract

To identify susceptibility loci for schizophrenia, we performed a two-stage genome-wide association study (GWAS) of schizophrenia in the Han Chinese population (GWAS: 746 individuals with schizophrenia and 1,599 healthy controls; validation: 4,027 individuals with schizophrenia and 5,603 healthy controls). We identified two susceptibility loci for schizophrenia at 6p21-p22.1 (rs1233710 in an intron of ZKSCAN4, P combined = 4.76 × 10 -11, odds ratio (OR) = 0.79; rs1635 in an exon of NKAPL, P combined = 6.91 × 10 -12, OR = 0.78; rs2142731 in an intron of PGBD1, P combined = 5.14 × 10 -10, OR = 0.79) and 11p11.2 (rs11038167 near the 5ĝ€2 UTR of TSPAN18, P combined = 1.09 × 10 -11, OR = 1.29; rs11038172, P combined = 7.21 × 10 -10, OR = 1.25; rs835784, P combined = 2.73 × 10 -11, OR = 1.27). These results add to previous evidence of susceptibility loci for schizophrenia at 6p21-p22.1 in the Han Chinese population. We found that NKAPL and ZKSCAN4 were expressed in postnatal day 0 (P0) mouse brain. These findings may lead to new insights into the pathogenesis of schizophrenia. © 2011 Nature America, Inc. All rights reserved.