Vitamin d receptor (VDR) gene polymorphisms and risk for polycystic ovary syndrome and infertility: an updated systematic review and meta-analysis

Background Vitamin D receptor (VDR) gene polymorphisms have been implicated in polycystic ovary syndrome (PCOS). Despite VDR gene polymorphisms importance and their risk for PCOS, they have not been extensively studied. The main objective was to evaluate the associations between VDR gene polymorphisms and risk for PCOS. Methods The current systematic review and meta-analysis examined VDR gene polymorphisms with PCOS in case-control and cohort studies. Relevant keywords were used to search Scopus, Web of Science, PubMed, MEDLINE, ScienceDirect, and Google Scholar for peer-reviewed publications until July 1, 2024. Selected papers were assessed for risk bias and quality using the Modified Newcastle-Ottawa scale. A meta-analysis was conducted using a random-effect model. The association between VDR gene polymorphism(s) and PCOS in women was reported as odds ratios (ORs) with 95 % confidence intervals (CIs). Results Twenty eligible studies, including 5618 subjects, were included in systematic review and meta-analysis. This study revealed a significant association between ApaI (rs7975232; OR = 1.18, 95 % CI = 1.06–1.30, p < 0.01), BsmI (rs1544410; OR = 1.22, 95 % CI = 1.08–1.37, p < 0.01), Cdx2 (rs11568820; OR = 1.15, 95 % CI = 0.97–1.38, p < 0.01), and TaqI (rs731236; OR = 1.25, 95 % CI = 1.13–1.39, p < 0.01). However, there was no significant association in the FokI (rs22228570; OR = 1.01, 95 % CI = 0.91–1.112, p = 0.12) polymorphism with PCOS risk. Conclusions The present systematic review and meta-analysis shows that women with ApaI, BsmI, Cdx2, and TaqI VDR gene polymorphisms may have a higher risk of PCOS. This study was registered on the Prospective International Registry of Systematic Reviews (PROSPERO) with registration number CRD42024564851.

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