Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome-a Case-Control Study in Punjab

Polycystic ovary syndrome (PCOS) is an endocrine-metabolic syndrome that involves hyperandrogenism, menstrual irregularities, and/or small cysts in one or both ovaries which might lead to infertility in women. The genetics of PCOS is heterogenous with the involvement of several genes reported in the hypothalamic-pituitary-gonadal axis. Follicular growth and steroidogenesis regulation are both critically dependent on follicle-stimulating hormone (FSH). The variants of FSHR cause abnormal folliculogenesis, steroidogenesis, and oocyte maturation at various stages of growth and may render women more susceptible to PCOS development. The present case-control study evaluated the association of FSHR rs6165 and rs6166 variants with PCOS. A total of 743 females were recruited. PCR-RFLP method was used for the genotypic analysis of FSHR polymorphisms. Obesity was examined according to the categorization of body mass index (BMI) and waist-hip ratio (WHR). Biochemical analysis, including a lipid profile, LH, FSH, and testosterone levels, was done in both PCOS women and controls. BMI and WHR revealed a statistically significant difference between PCOS cases and controls. Overall, levels of HDL were significantly lower, whereas cholesterol, triglycerides, LDL, and VLDL levels were higher in PCOS women (p < 0.05). The genotypic and allelic frequencies of rs6165 and rs6166 did not demonstrate significant differences when PCOS women were compared with the control group. However, clinical features of PCOS including gonadotropic hormone (FSH), hyperandrogenism, and dyslipidemia were significantly correlated with variants of FSHR. The present study concludes that rs6165 and rs6166 were significantly related to clinical features of PCOS, regardless of providing direct disease risk.