Unlocking the genetic mysteries: navigating VDR polymorphisms in polycystic ovary syndrome: a narrative review

There is rising recognition of the importance of vitamin D (VD) in human reproduction. The vitamin D receptor (VDR) in the human genome is encoded by the VDR gene found on chromosome 12cenq12 which comprises 14 exons. The VDR gene polymorphisms such as ApaI, BsmI, FokI, and TaqI take part in susceptibility and progression of Polycystic Ovary Syndrome (PCOS). The VDR gene’s non-coding regions have the BsmI (rs1544410) and ApaI (rs7975232) polymorphisms. The 3′ coding regions contain the FokI polymorphism (rs2228570) and TaqI (rs731236) polymorphisms, which influence functional activity by producing a lengthier VDR protein with lower transcriptional activity. These variants are related to fertility and reproductive health in females, metabolic disturbances like insulin resistance, obesity, and diabetes. The FokI polymorphism, located in exon 2 of the VDR gene, involves a nucleotide substitution from A to G, impacting mRNA stability, translational activity, and ultimately VDR levels and VD function, associated with the risk of PCOS in females. In PCOS, research indicates associations between these polymorphisms and metabolic, hormonal, and fertility factors. For instance, the BsmI polymorphism correlates with PCOS risk, while TaqI polymorphism may influence metabolic variables and hormone levels. These findings underscore the role of VDR gene polymorphisms in PCOS pathogenesis and highlight their potential as genetic markers for assessing PCOS risk and metabolic profiles.