Frequency of rs6166 2039 CT Single Nucleotide Polymorphism in follicle stimulating hormone receptor gene in a Syrian population, Case-Control study

Background & Objective: Polycystic Ovary Syndrome is a complex, multifactorial chronic disease, associated with a range of symptoms, including infertility, acne, amenorrhea, hirsutism, and ovarian cysts. Studies hav Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in females of reproductive age, with multifactorial etiology involving both genetic and environmental components. It is characterized by polycystic ovarian morphology (≥20 follicles measuring 2–9 mm in diameter in each ovary), oligo/anovulation, and hyperandrogenism manifested by hirsutism, acne, and insulin resistance. Long-term consequences of PCOS may include infertility, cardiovascular diseases, obesity, and type 2 diabetes mellitus. Single nucleotide polymorphisms (SNPs) in the gene encoding the follicle-stimulating hormone receptor (FSHR) have been proposed as candidate genetic factors associated with disease susceptibility. Objective: This study aimed to investigate the association of rs6165 C/T SNP in FSHR with the risk of developing PCOS. Study Design and Methods: A case-control observational study was conducted, including 38 women diagnosed with PCOS based on the revised Rotterdam criteria and 46 healthy controls with PCOS ruled out using the same criteria. Genotyping of the rs6166 C/T SNP was performed using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis with BsrI enzyme. Sanger sequencing was used to confirm 5% of the samples. Results: allele frequencies of C and T for rs6166 C/T were comparable between cases and controls (P= 0.7). However, genotypic distribution (CT, CC, and TT) varied between the two groups—65.79%, 10.53%, and 23.68% in cases versus 43.48%, 23.91%, and 32.61% in controls, respectively—but this discrepancy did not reach statistical significance (P= 0.1). Conclusions: The findings of this study do not support an association between the FSHR rs6166 C/T polymorphisms and the risk of PCOS in this studied population.