Abstract
AimsMany studies have investigated the relationship between FTO gene polymorphism and polycystic ovary syndrome (PCOS) susceptibility but revealed mixed results. In this study, we aimed to perform a meta-analysis to clarify this association.MethodsPublished literature from PubMed, Embase and CNKI was retrieved. Meta-analysis was performed to calculate pooled odds ratio (OR) with 95% confidence interval (CI) using the random- or fix- effects model.ResultsA total of 5 studies (4778 cases and 4272 controls) were included in our meta-analysis. The results suggested that FTO rs9939609 polymorphism (or its proxy) was marginally associated with PCOS risk after adjustment for body mass index (BMI) (OR = 1.26; 95%CI: 1.02–1.55). However, the marginal association was not stable after sensitivity analysis. In the subgroup analysis by ethnicity, the association was significant in East Asians (OR = 1.43, 95%CI = 1.30–1.59) but not in Caucasians (OR = 1.04, 95%CI = 0.85–1.29).ConclusionsOur present meta-analysis indicated that FTO rs9939609 polymorphism (or its proxy) might not be associated with risk of PCOS in overall population. However, in East Asians, there might be a direct association between FTO variant and PCOS risk, which is independent of BMI (adiposity).
Highlights
Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting 5–7% of women of childbearing age [1,2,3]
The following information was extracted from each study: (1) name of the first author; (2) year of publication; (3) origin of country; (4) ethnicity; (5) number of cases and controls; (6) mean age and body mass index (BMI) of subjects; (7) odds ratio (OR) with 95% confidence interval (CI) under an additive model; (8) single nucleotide polymorphisms (SNPs); and (9) P value for Hardy-Weinberg equilibrium (HWE) test in controls
Two studies were excluded as both did not adjust for BMI which is one of the main confounding factors for the association [14,15]
Summary
Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting 5–7% of women of childbearing age [1,2,3]. It is characterized by hirsutism, anovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovarian morphology on ultrasound [4]. A large number of women with PCOS exhibit insulin resistance, b-cell dysfunction, impaired glucose tolerance and/or type 2 diabetes [5]. Given the high prevalence of obesity in PCOS, both diseases may share similar genetic background [9]. The pathogenesis of PCOS is still incompletely understood, it may be affected by the environmental or genetic factors, or their interactions
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