Polymorphism of Vitamin D Receptor Gene Variants in East Indian Women with Polycystic Ovary Syndrome

Polycystic ovarian syndrome (PCOS), the most common gynecological endocrinopathy. It affects 4-12% of women of reproductive age worldwide. Women with PCOS frequently suffer from metabolic disturbances including insulin resistance (IR), diabetes, obesity, hypertension and dyslipidemia. Evidences suggests that vitamin D deficiency might be a causal factor in the pathogenesis of IR and metabolic syndrome in PCOS women. The aim of this study was to investigate the association of VDR variants (Cdx2 and DHCR7) genes with metabolic and endocrine parameters including 25(OH)D levels in PCOS women. Moreover we examined whether there are associations with PCOS susceptibility. Metabolic, endocrine and anthropometric measurements were performed in 100 PCOS patients and 100 control women. Genotyping of vitamin D receptor (VDR variant) Cdx2 and DHCR7 gene was performed between the groups. Mean serum hydroxy vitamin D [25(OH)D] were significantly lower in PCOS patients compared to controls .In PCOS women, the VDR Cdx2 "AA" genotype was associated with lower fasting insulin and HOMA-IR. Also the DHCR7 "GG" genotype had a significantly higher risk for 25(OH)D levels