Association analysis of CHRNA3 polymorphisms with schizophrenia in a Chinese Han population: A case-control study

Schizophrenia (SCZ) is a highly heritable, chronic, severe psychiatric disorder associated with significant financial costs to families and societies. In this case-control study, we investigated the associations between seven SNPs in CHRNA3 gene and the risk of SCZ. A total of 1071 (384 cases and 687 controls) unrelated subjects were recruited for our association study. Seven candidate tagging SNPs in CHRNA3 gene (rs3743077, rs1317286, rs938682, rs12914385, rs2869546, rs3743075, rs8040868) selected in HapMap database were genotyped by Sequenom MassARRAY. Finally, association analysis was conducted under various models. According to our results, in genetic model analysis, rs12914385 and rs8040868 are associated with decreased risk of SCZ in female subgroup; rs3743075 is associated with decreased risk of SCZ in subgroup with age <45; while rs3743077 and rs2869546 are associated with increased risk of SCZ. Haplotype analysis suggested that the 3 variants comprised 1 block, and that the haplotype A(rs938682)C(rs12914385)C(rs2869546) was significantly correlated with an increased risk of SCZ in the subgroup with age ≥45. Our data indicate potential associations between CHRNA3polymorphisms and SCZ susceptibility, and the significant variants identified in our study may be used as genetic biomarkers for SCZ susceptibility in Chinese Han population.