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Abstract To assess the relationship between the gene polymorphisms of MTHFR C677T and MTRR A66G of Chinese women and their risk of polycystic ovary syndrome (PCOS). Methods: Databases including PubMed, Web of Science, EMBASE, CNKI, Wanfang, and VIP were searched by computer, and the case-control studies about the relationship between the gene polymorphisms of MTHFR C677T, A1298C, and MTRR A66G of Chinese women and their risk of PCOS were retrieved and collect. State software 11.0 was used to do the meta analysis, the relevancy of the gene polymorphisms of MTHFR C677T, A1298C, and MTRR A66G of the women and their of PCOS was evaluated by odds ratio and its 95% confidence interval (95% CI), and the sensitivity analysis and publication bias were also conducted. Results: 8 case-control studies about the relationship between the gene polymorphisms of MTHFR C677T of Chinese women and their risk of PCOS were included, which included 1424 women with PCOS and 1576 healthy women. 7 case-control studies about the relationship between the gene polymorphisms of MTHFR A1298C of Chinese women and their risk of PCOS were included, which included 1079 women with PCOS and 1269 healthy women. 4 case-control studies about the relationship between the gene polymorphisms of MTRR A66G of Chinese women and their risk of PCOS were included, and which included 522 women with PCOS and 633 healthy women. There were 5 models of MTHFR C677T, which included T vs. C (OR=1.48, 95%:1.06-2.08), TT vs. CC (OR=2.08, 95%:1.08-4.02), CT vs. CC (OR=1.64, 95%:1.09-2.49), (TT+CT) vs. CC (OR=1.78, 95%:1.09-2.89), and TT vs. (CC+CT)(OR=1.60, 95%:1.06-2.42). There were 5 models of MTHFR A1298C, which included: C vs. A (OR=1.54, 95%:1.30-1.82), CC vs. AA（OR=1.54, 95%：1.35-1.76）, AC vs. AA (OR=1.19, 95%：1.08-1.31), and (CC+AC) vs. AA (OR=1.25, 95%：1.15-1.37). The GG vs. (AG+AA) and GG vs. (AG+AA) as recessive comparison model of MTRR A66G were related to the risk of PCOS (OR=1.58, 95%:1.37-1.83). Conclusion: There are the associations of the gene polymorphisms of MTHFR C677T, A1298C, and MTRR A66G of Chinese women with their risk of PCOS.
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