Vitamin D receptor gene polymorphisms and risk of polycystic ovary syndrome in South Indian women

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive age women. Emerging evidence suggests that Vitamin D Receptor (VDR) might be a causal factor for characteristics associated with PCOS such as obesity and type 2 diabetes. Present study investigated association between VDR gene BsmI A/G (rs1544410), ApaI A/C (rs7975232) and TaqI T/C (rs731236) single nucleotide polymorphisms and PCOS risk in South Indian women. Genotyping of VDR gene SNPs was carried out in PCOS patients (n=95) and controls (n=130) by PCR-RFLP method and confirmed by sequencing analysis. Haplotype frequencies for multiple loci and the standardized disequilibrium coefficient (D) for pairwise linkage disequilibrium (LD) were assessed by Haploview software. Results showed significantly increased frequencies of BsmI G/G (p=.0197), ApaI C/C (p=.048), TaqI C/C (p=.044) genotypes and BsmI G (p=.0181), ApaI C (p=.0092), TaqI C (p=.0066) alleles in patients compared to controls. In addition, the frequency of the BsmI G, ApaI C, TaqI C' haplotype was also significantly elevated in patients (p=.0087). In conclusion, the VDR gene BsmI A/G ApaI A/C TaqI T/C and haplotype may constitute an inheritable risk factor for PCOS in South Indian women.