白介素-18基因-607C/A多态性与子宫内膜异位症的关系

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目的探讨白介素-18(IL-18)基因-607C/A多态性与子宫内膜异位症(EDM)的关系。方法选择EDM患者234例(EDM组)、健康妇女215例(对照组),采用聚合酶链反应—焦磷酸测序法检测其子宫内膜中的IL-18基因-607C/A多态性分布情况。结果 EDM组IL-18基因-607C/A多态位点的CC、CA和AA基因型频率分别为34.2%、43.6%、22.2%,等位基因C、A的频率分别为56.0%、44.0%;对照组IL-18基因-607C/A多态位点的CC、CA和AA基因型频率分别为20.5%、48.7%、30.8%,等位基因C、A的频率分别为44.9%、55.1%。IL-18基因-607C/A多态性是EDM发病的独立危险因素(P<0.01);C等位基因携带者患EDM的发病风险增高(P<0.01)。结论 IL-18基因-607C/A多态性与EDM的发病存在相关性,C等位基因是EDM发病的重要遗传学危险因素。 Objective To investigate the relationship between -607C / A polymorphism of interleukin-18 (IL-18) gene and endometriosis (EDM). Methods 234 cases of EDM (EDM group) and 215 healthy women (control group) were enrolled. The distribution of -607C / A polymorphism of IL-18 gene in endometrium was detected by polymerase chain reaction-pyrosequencing . Results The frequencies of genotypes CC, CA and AA in -607C / A polymorphism of IL-18 gene in EDM group were 34.2%, 43.6% and 22.2%, respectively. The frequency of allele C and A was 56.0% and 44.0% The frequencies of CC, CA and AA genotypes in the -607C / A polymorphism locus of IL-18 gene in control group were 20.5%, 48.7% and 30.8%, respectively. The frequencies of allele C and A were 44.9% and 55.1% . The -607C / A polymorphism of IL-18 gene was an independent risk factor for EDM (P <0.01). The incidence of EDM increased with C allele (P <0.01). Conclusion There is a correlation between -607C / A polymorphism of IL-18 gene and the incidence of EDM. C allele is an important genetic risk factor of EDM.
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