Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population.

Background: Schizophrenia (SCZ) is a common mental disorder with high heritability, and genetic factors play a major role in the pathogenesis. Recent researches indicated that the CACNA1I involved in calcium channels probably affect the potential pathogenesis of SCZ.

Results: In this study, we attempted to investigate whether the CACNA1I gene contributes the risk to SCZ in the Uighur Chinese population, and performed a case-control study involving 985 patient samples and 1218 normal controls to analyze nine SNPs within the CACNA1I gene. Among these sites, six SNPs were significantly associated with SCZ in the allele distribution: rs132575 (adjusted P_allele  = 0.039, OR = 1.159), rs713860 (adjusted P_allele  = 0.039, OR = 0.792), rs738168 (adjusted P_allele  = 0.039, OR = 0.785), rs136805 (adjusted P_allele  = 0.014, OR = 1.212), rs5757760 (adjusted P_allele  = 0.042, OR = 0.873) and rs5750871 (adjusted P_allele  = 0.039, OR = 0.859). In addition, two SNPs turned to be risk factors for SCZ not only in the allele distribution, but also in the genotype distribution: rs132575 (adjusted P_genotype  = 0.037) and rs136805 (adjusted P_genotype  = 0.037).

Conclusions: Overall, the present study provided evidence that significant association exists between the CACNA1I gene and SCZ in the Uighur Chinese population, subsequent validation of functional analysis and genetic association studies are needed to further extend this study.