Investigation of rs7975232 Polymorphism in Vitamin D Binding Receptor Gene in Patients with Polycystic Ovarian Syndrome

Abstract

Introduction: Numerous studies have illuminated an association between vitamin D metabolism and the onset of Polycystic Ovarian Syndrome PCOS. The vitamin D binding receptor VDR is a polymorphic protein with a crucial role in vitamin D metabolism. This study aimed to examine the association of the rs7975232 polymorphism in patients with PCOS.

Methods: A total of 100 women diagnosed with PCOS and 100 fertile, non-PCOS women were enrolled in this study. Blood samples were collected from these participants, and their biochemical and hormonal profiles were assessed and compared for normality using Student's t-test and Mann-Whitney tests. After DNA extraction, genotyping for the rs7975232 polymorphism was carried out using the PCR-RFLP method, and the results were compared in the study population with the Chi-squared test.

Results: The findings revealed no significant differences in the genotypes and alleles of rs7975232 between the control group and women with PCOS. Genotype analysis highlighted the prevalence of the CA genotype over the CC genotype in women with PCOS; however, it did not elevate the risk of PCOS(OR = 0.66, CI = 0.31–1.37, P = 0.2.

Conclusion: The study results highlight no significant correlation between the rs7975232 polymorphism in the VDR gene and the risk of PCOS in Iranian women. The findings showed no significant differences in the rs7975232 genotype polymorphism across key parameters, including insulin resistance IR, inflammation, and lipid profile. However, further research is necessary to elucidate the precise role of VDR and its associated polymorphisms in the pathogenesis of PCOS and its related complications.