Abstract

Objective: Published studies have demonstrated a closer association between vitamin D receptor (VDR) gene polymorphisms and polycystic ovary syndrome (PCOS) risk, but the results were inconsistent. We therefore performed this meta-analysis to explore the precise associations between VDR gene polymorphisms and PCOS risk.Methods: Five online electronic databases (PubMed, Embase, SCI index, CNKI and Wanfang) were searched. Odds ratios (ORs) with 95% confidence interval (CIs) were calculated to assess the association between VDR Fok I C/T (rs10735810), BsmI A/G (rs1544410), ApaI A/C (rs7975232), and TaqI T/C (rs731236) polymorphisms and PCOS risk. In addition, heterogeneity, accumulative/sensitivity analysis and publication bias were conducted to check the statistical power.Results: Overall, 10 publications (31 independent case-control studies) involving 1,531 patients and 1,174 controls were identified. We found that the C mutation of ApaI A/C was a risk factor for PCOS (C vs. A: OR = 1.20, 95%CI = 1.06–1.35, P < 0.01, I2 = 29.7%; CC vs. AA: OR = 1.49, 95%CI = 1.17–1.91, P < 0.01, I2 = 0%; CC vs. AA+AC: OR = 1.36, 95%CI = 1.09–1.69, P = 0.01, I2 = 12.8%). Moreover, the BsmI A/G polymorphism also showed a dangerous risk for PCOS in Asian population (G vs. A: OR = 1.62, 95%CI = 1.24–2.11, P < 0.01, I2 = 0%; AG vs. AA: OR = 2.08, 95%CI = 1.26–3.20, P < 0.01, I2 = 0%; GG vs. AA: OR = 2.21, 95%CI = 1.29–3.77, P < 0.01, I2 = 0%; AG+GG vs. AA: OR = 2.12, 95%CI = 1.42–3.16, P < 0.01, I2 = 0%). In addition, no significant association of Fok I C/T, and TaqI T/C polymorphisms was observed.Conclusions: In summary, our meta-analysis suggested that VDR gene polymorphisms contribute to PCOS development, especially in Asian populations.

Highlights

  • Polycystic ovary syndrome (PCOS), characterized by clinical features including menstrual disorder, persistent anovulation, and polycystic ovaries, is one of the most common reproductive, endocrine, and metabolic disorder syndromes among women of reproductive age (Sirmans and Pate, 2013)

  • We found that the C mutation of ApaI A/C was a risk factor for PCOS (C vs. A: Odds ratios (ORs) = 1.20, 95%confidence intervals (CIs) = 1.06–1.35, P < 0.01, I2 = 29.7%; CC vs. AA: OR = 1.49, 95%CI = 1.17–1.91, P < 0.01, I2 = 0%; CC vs. AA+AC: OR = 1.36, 95%CI = 1.09–1.69, P = 0.01, I2 = 12.8%)

  • The BsmI A/G polymorphism showed a dangerous risk for PCOS in Asian population (G vs. A: OR = 1.62, 95%CI = 1.24–2.11, P < 0.01, I2 = 0%; AG vs. AA: OR = 2.08, 95%CI = 1.26–3.20, P < 0.01, I2 = 0%; GG vs. AA: OR = 2.21, 95%CI = 1.29–3.77, P < 0.01, I2 = 0%; AG+GG vs. AA: OR = 2.12, 95%CI = 1.42–3.16, P < 0.01, I2 = 0%)

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Summary

Introduction

Polycystic ovary syndrome (PCOS), characterized by clinical features including menstrual disorder, persistent anovulation, and polycystic ovaries, is one of the most common reproductive, endocrine, and metabolic disorder syndromes among women of reproductive age (Sirmans and Pate, 2013). Polycystic ovary syndrome (PCOS) has become a highly prevalent disorder that affects women in their reproductive age and contributes to multiple complications. According to the NIH 1990 criteria and/or Rotterdam 2003 criteria, the cumulative prevalence of PCOS was ∼4–21% worldwide (Knochenhauer et al, 1998; Asuncion et al, 2000; Azziz et al, 2004). Long-term complications including the mental dysfunctions, such as mood and sleeping disorders, are found. The precise etiology and underlying pathological mechanism of PCOS remain unclear

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