Hiral Chaudhary
Senior research fellow (Ph.D Scholar)
Title: Association of rs700519 (C/T) polymorphism in CYP19A1 gene among polycystic ovary syndrome women
Biography
Biography: Hiral Chaudhary
Abstract
Polycystic ovary syndrome (PCOS) is a complex multifactorial endocrine condition affecting about 5- 10% of women of reproductive age. The etiopathogenesis of PCOS is not fully elucidated, but it seems that hyperandrogenism plays a key role in developing PCOS. Studies on PCOS patients have shown elevated levels of androgen due to enhanced ovarian steroidogenesis, which is mostly linked to altered expression of key enzymes (CYP19, CYP17, CYP21, CYP11A, HSD17, INSR) in the steroidogenesis. This study aimed to investigate the association between an exon rs700519 (C/T) variant of the CYP19A1 gene and PCOS. The present study recruited 200 subjects comprising 100 PCOS cases and 100 healthy age-matched controls. Blood samples were collected for genetic and hormonal analysis and Body mass index was measured for all cases. The assessment of the rs700519 (C/T) variant of the CYP19A1 candidate gene was done by the tetra-primer amplification refractory mutation system polymerase chain reaction (Tetra ARMS-PCR) technique followed by statistical analysis. The association between the rs700519 polymorphism and Gujarati-- women's propensity for PCOS was examined. According to the findings, 43% were homozygous for the wild-type (CC) genotype, 31% were heterozygous for the (CT) genotype, and 26% were homozygous for the mutant type (TT) genotype. This was also true for controls, which revealed that 13% were homozygous (CC) genotype, 50% were heterozygous with (CT), and 9% were homozygous with mutant type (TT) genotype. BMI was significantly different between PCOS women and healthy controls. We concluded that there was a lack of association between the rs700519 polymorphism and PCOS in the group under study. This calls for more research into other genes and SNPs to determine the prevalence of PCOS.