Genetic Polymorphism in Polycystic Ovarian Syndrome

The present study identify the association of VDBP and CYP2R1 gene polymorphisms with vitamin D status in women with polycystic ovarian syndrome. The most prevalent endocrine abnormality among women of reproductive age is polycystic ovarian syndrome (PCOS). Hypovitaminosis D may also play a major role in the onset and progression of PCOS. Vitamin D normalizes extracellular calcium and parathyroid hormone concentrations, which have an indirect impact on glucose metabolism. Little is known about the role of genetic variation in vitamin D metabolism in PCOS etiology. This hospital-based case–control study was conducted in the Department of Biochemistry in collaboration with the Department of Obstetrics and Gynaecology at Vardhman Mahavir Medical College and Safdarjang Hospital (New Delhi, India) from January 2012 to December 2012. One hundred women were recruited from the Department of Obstetrics and Gynaecology. Of these, 50 women were aged 15–45 years and had been diagnosed with PCOS. Genotyping of Vitamin D Binding Protein (VDBP) single nucleotide polymorphisms (SNPs) rs7041 (HaeIII; G>T) and rs4588 (StyI; A>C) and CYP2R1 SNP rs2060793 (HinfI; A>G) was carried out by restriction fragment length polymorphism in 50 cases of PCOS that were compared with 50 age-matched healthy women.

Vitamin D levels were found to be significantly lower in women with PCOS (p = 0.008) than in age-matched controls. In women with a vitamin D deficiency (<20 ng/ml), the GT allele of the VDBP SNP rs7041 (p value =0.04), the VDBP allelic combination Gc1F/1F (T allele of rs4588 and C allele of rs7041) (p value =0.03), and the GA allele of the Cytochrome P4502R1 (CYP2R1) SNP rs2060793 (p = 0.05) were associated with an increased risk of developing PCOS. So, maintaining the normal vitamin D level may prevent the chance of developing PCOS. This work could be extended to other genes related to insulin resistance or metabolic syndrome to conclusively determine the genetic factors associated with PCOS.