Chromosome 8p12 was first identified as a schizophrenia (SCZ) risk locus in Chinese populations and replicated in European populations. However, the underlying functional variants still need to be further explored. To identify plausible causal variants associated with increased SCZ risk within the 8p12 locus.: A total of 386 potentially functional variants from 29 genes within the 8p12 locus were analysed in 2,403 SCZ cases and 2,594 control subjects in the Han Chinese population using Affymetrix customized genotyping assays. SHEsisplus was used for association analysis. A multiple testing corrected value (false discovery rate (FDR)) < 0.05 was considered significant, and an unadjusted value <0.05 was considered nominal evidence of an association.: We did not find significant associations between the tested variants and SCZ. However, nominal associations were found for rs201292574 (unadjusted = 0.033, FDR = 0.571; 95% confidence interval (CI): 0.265-0.945; NP_006274.2:p.Ala211Thr) and rs45563241 (unadjusted = 0.039, FDR = 0.571; 95% CI: 1.023 to 1.866; a synonymous mutation in ).: Our results provide limited evidence for the associations between variants from protein coding regions in 8p12 and SCZ in the Chinese population. Analyses of both coding and regulatory variants in larger sample sizes are required to further clarify the causal variants for SCZ with this risk locus.
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