Genetic analysis of common variants in the CMYA5 (cardiomyopathy-associated 5) gene with schizophrenia

•Our work provides the evidence of CMYA5 associated with schizophrenia.•Allele distribution of 3 SNPs showed significant association with schizophrenia.•Several SNP tests of haplotype association were significantly positive.

Recently, CMYA5 was suggested as a susceptibility gene for schizophrenia based on two independent studies utilizing different ethnic samples. We designed a case-control study to examine whether 21 SNPs contained within CMYA5 were associated with the disorder in a western Han Chinese sample comprised of 488 schizophrenia patients and 516 healthy control subjects. The allele distribution of SNPs rs7714250, rs16877135 and rs13158477 showed significant association with schizophrenia (Puncorrected = 0.008, Puncorrected = 0.04, and Puncorrected = 0.009, respectively) as well as the genotype distribution in the Cochran-Armitage trend test (Puncorrected = 0.008, Puncorrected = 0.037 and Puncorrected = 0.011, respectively). After Bonferroni correction, rs7714250 showed a trend of association with schizophrenia both in allele distribution (Pcorrected = 0.088) and genotype distribution (Pcorrected = 0.088). Furthermore, significant associations were found in several two-, three-, four-, and five-SNP tests of haplotype analyses. Replications of the association of CMYA5 with schizophrenia across various studies suggest that it is very likely a potential common schizophrenia-related gene worldwide. Functional studies correlating CMYA5 with DTNBP1 and PKA warrant further investigation of the molecular basis of this gene in relationship to the signal transduction pathway(s) underlying the pathogenesis of schizophrenia.