Unraveling the interplay between vitamin D deficiency, VDR polymorphisms, and polycystic ovary syndrome

Abstract

Purpose:Polycystic ovary syndrome (PCOS) is a complex and emerging heterogeneous disorder in reproductive-aged women and teenagers. Vitamin D deficiency (VDD) and genetic variations in the vitamin D receptor (VDR) pronouncedly influence its manifestations. The interplay between VDD and VDR polymorphisms has an umbrella effect on the endocrine and metabolic milieu of PCOS, underscoring the importance of VD in its management. This study tried to find out: How how VDD and single-nucleotide polymorphisms (SNPs) in the VDR gene influence the pathophysiology of PCOS, and how do these associations vary across different ethnic groups? Methods: A case-control study was conducted involving 80 PCOS women (ages 17–36 years) and 100 of their gender, and age-matched healthy controls (HC) belonging to the ethnicity of West Bengal, India. VDD and VDRpolymorphisms [BsmI (rs1544410) and FokI (rs2228570)] were estimated by biochemical assessment and PCR-RFLP, respectively. Bioelectrical impedance and structured questionnaires were used for evaluation of anthropometric indices, sunlight (UVB) exposure, and nutritional status, respectively. Results: This study finds significant correlations between VDR variants and insulin resistance, hyperandrogenism, inflammatory markers, and obesity indices. Mutant VDRgenotypes (BsmI-bb/Bb, FokI-ff/Ff) influence metabolic and cutaneous features, suggesting a genetic basis for VD-related disturbances in PCOS. Conclusions:The study accentuates the need for personalised therapeutic strategies, particularly VD supplementation, based on genetic profiles to manage PCOS and its associated metabolic disturbances. Key Message:VDD, a genetic predisposition related to VDR-SNPs, combined with limited sun exposure and poor dietary choices, exacerbates PCOS symptoms, impacting metabolic and endocrine homeostasis.