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首页> 美国卫生研究院文献>Experimental Molecular Medicine >CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women
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CYP19 gene variant confers susceptibility to endometriosis-associated infertility in Chinese women

机译：CYP19基因变异使中国女性易患子宫内膜异位症相关的不育症

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摘要

An aromatase encoded by the CYP19 gene catalyzes the final step in the biosynthesis of estrogens, which is related to endometriosis development. To assess the association of CYP19 gene polymorphisms with the risks of endometriosis, chocolate cysts and endometriosis-related infertility, a case–control study was conducted in Chinese Han women by recruiting 225 healthy control females, 146 patients with endometriosis, 94 endometriosis women with chocolate cyst and 65 women with infertility resulting from endometriosis, as diagnosed by both pathological and laparoscopic findings. Individual genotypes at rs2236722:T>C, rs700518:A>G, rs10046:T>C and [TTTA]n polymorphisms were identified. Allelic and genotypic frequencies were compared between the control group and case groups by chi-square analysis. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were determined by logistic regression analysis to predict the association of CYP19 gene polymorphisms with the risk of endometriosis, the related chocolate cysts and infertility. The genotype distributions of the tested CYP19 gene polymorphisms were not significantly different between the healthy control group and the endometriosis/endometriosis with the chocolate cyst group. However, the CYP19 rs700518AA genotype was significantly associated with an increased risk of endometriosis-related infertility (55.4% in the infertility group vs 25.3% in the control group, P<0.001; OR (95% CI): 3.66 (2.06–6.50)) under the recessive form of the A allele. Therefore, we concluded that in Chinese Han females CYP19 gene polymorphisms are not associated with susceptibility to endometriosis or chocolate cysts, whereas CYP19 rs700518AA genotype confers genetic susceptibility to endometriosis-related infertility.
机译：CYP19基因编码的芳香酶催化雌激素生物合成的最后一步，这与子宫内膜异位症的发展有关。为了评估CYP19基因多态性与子宫内膜异位，巧克力囊肿和子宫内膜异位相关的不孕风险的关联，在中国汉族妇女中进行了一项病例对照研究，招募了225名健康对照女性，146例子宫内膜异位患者，94例子宫内膜异位女性巧克力病理和腹腔镜检查均诊断为子宫内膜异位症引起的囊肿和65名女性不育。鉴定了rs2236722：T> C，rs700518：A> G，rs10046：T> C和[TTTA] n多态性的个体基因型。通过卡方分析比较了对照组和病例组之间的等位基因和基因型频率。通过logistic回归分析确定赔率（OR）和95％置信区间（95％CI），以预测CYP19基因多态性与子宫内膜异位症，相关巧克力囊肿和不育风险之间的关系。在健康对照组和巧克力囊肿组的子宫内膜异位/子宫内膜异位之间，被测CYP19基因多态性的基因型分布没有显着差异。然而，CYP19 rs700518AA基因型与子宫内膜异位症相关的不育风险增加显着相关（不育组中55.4％，对照组中25.3％，P <0.001； OR（95％CI）：3.66（2.06-6.50） ）在A等位基因的隐性形式下。因此，我们得出结论，在中国汉族女性中，CYP19基因多态性与子宫内膜异位症或巧克力囊肿的易感性无关，而CYP19 rs700518AA基因型赋予对子宫内膜异位症相关性不育的遗传易感性。

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