A population-based association study of 2q32.3 and 8q21.3 loci with schizophrenia in Han Chinese

Abstract It has been reported that two new schizophrenia susceptibility loci (2q32.3 and 8q21.3) containing two single-nucleotide polymorphisms (SNPs; rs17662626 and rs7004633) have been identified in Europeans by a genome-wide association study. To determine if the two regions are associated with schizophrenia in Han Chinese, which are distinct from Europeans, we analyzed 9 SNPs, including rs17662626 and rs7004633, within 2 regions involving 1430 cases and 1570 controls from the Han population. Single SNP association, haplotype association, and gender-specific association analyses were performed. Single SNP analyses revealed that there was no association with schizophrenia in the region of 2q32.3, but rs7004633 mapping to the region of 8q21.3 was significantly associated with schizophrenia ( p = 5.1 × 10−5 ; OR = 1.274; 95% CI, 1.134–1.429). Further genotype and haplotype association analyses for the region of 8q21.3 suggested a similar pattern. Additionally, analyses by haplotypes indicated that a haplotype block in the region of 8q21.3 highly associated with schizophrenia and one haplotype in this haploblock had a 1.5-fold increase in the cases. Our results provide further evidence regarding the association of the region of 8q21.3 with schizophrenia in Han Chinese, as well as Europeans, which confirmed the previous report that 8q21.3 may play important roles in the etiology of schizophrenia.