Vitamin D receptor Taqi gene variant in exon 9 and polycystic ovary syndrome risk

ABSTRACT

Polycystic ovary syndrome [PCOS] is known as a metabolic disorder. The results of recent studies implied that vitamin D receptor [VDR] genetic variants may impact PCOS and insulin resistance in women with PCOS. The aim of the present study was to determine the VDR TaqI gene variant in exon 9 [T/C] [rs731236] in normal controls and patients with PCOS for the first time in Iranian Azeri women. In this case control study between April 2011 and June 2012, a total of 76 women aged 18-40 years [38 patients with PCOS and 38 healthy women as normal controls] participated. Genotypes of VDR TaqI in exon 9 [T/C] [rs731236] were determined using the PCR-RFLP method. The frequencies of VDR TaqI T anc C alleles were 0.605 and 0.395 in cases and 0.697 and 0.303 in controls. Also, the genotypic frequencies of VDR TaqI were 16] [42.11], 14[36.84], and 8[21.05] in cases, and 17[44.74], 19[50], and 2[5.26] in controls for TT, TC and CC genotypes respectively. There was no difference in genotype and allele frequencies between PCOS and controls [p value>0.05] with the exception of the CC genotype [p value=0.04]. This report, a first of its own kind in Iranian Azeri patients, suggests that the CC genotype of VDR TaqI in exon 9 [rs731236] is associated with PCOS