Abstract

We performed a combined genome-wide association studies of schizophrenia comprising 4,384 cases and 5,770 controls of Chinese Han ancestry. Our replication study tested 13 SNPs in an independent cohort of 4,339 schizophrenia cases and 7,043 controls. A combined analysis confirmed genome-wide significant findings of associations across populations for four SNPs on 2p16.1 (rs1051061 at exon of VRK2, P = 1.14×10-12, odd ratio (OR) = 1.17), 6p22.1 (rs115070292 at intron of GABBR1, P = 4.96×10-10, OR = 0.77) and 10q24.32 (rs10883795) in an intron of AS3MT, P = 7.94×10-10, OR = 0.87; rs10883765 in an intron of ARL3, P = 3.06×10-9, OR = 0.87). The polygenic risk score calculated by using the Psychiatric Genomics Consortium schizophrenia GWAS data modestly predicted case-control status in the Chinese population (Nagelkerke R2: 1.7% ~5.7%). Together, these findings may provide new insights for the schizophrenia disease mechanism across different populations.

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