子宫内膜异位症与雌激素受体α基因多态性之间的相关性

Association of gene polymorphisms of estrogen receptor alpha with endometriosis

目的探讨雌激素受体α（estrogen receptor,ERα）基因多态性与子宫内膜异位症（en-dometriosis,EMs）发生的关系,从而了解EMs的发病因素,为疾病的早期诊断及预防提供实验依据。方法选取214例经手术及病理检查确认为EMs的患者作为观察组,选取健康体检者160例作为正常对照组。采用分子生物学的方法分析ERα的Pvu、Xba酶切位点限制性片段长度多态性（re-striction fragment length polymorphism,RFLP）,观察ERα基因多态性在观察组与对照组中的基因型分布。采用PCR-RFLP的方法分析雌激素受体的多态性。RFLP用Pp（Pvu）和Xx（Xba）来表示。结果Xba多态性在观察组与对照组中的分布存在显著性差异（P=0.002）。观察组X等位基因频率为26.17%,对照组为18.75%,两组间频率比较有显著性差异（P=0.002）;x等位基因频率为73.83%,对照组为81.25%,两组间频率比较有显著性差异（P=0.002）。其中X与x的比值比（OR）值为2.25（95%可信区间1.56～3.23）。Pvu多态性在两组间分布比较,无显著性差异（P=0.081）,两组P与p等位基因频率分布比较,亦无显著性差异（P=0.069）。结论观察人群中X等位基因与EMs发病危险密切相关。

Objective To explore the association of gene polymorphisms of estrogen receptor with cndometriosis, and provide the clues for early treatment after understanding of etiology of endometriosis. Methods 214 patients with endometriosis pathologically diagnosed after operation, and 160 controls were enrolled into this study. PCR-RFLP with restriction enzyme Pvu Ⅱ and Xba Ⅰ was performed to identify the gene polymorphisms of estrogen receptor alpha, and the correlations of estrogen receptor alpha with endometriosis were then analyzed. Results There was a significant difference between patients and controls（P=0. 002） in the Xba Ⅰ polymorphism. The frequencies of allele X were 26. 17% and 18; 75%, and x were 73. 83% and 81.25% in patients and controls respectively. The frequencies of allele X and x were significantly different between patients and controls （P =0. 002）. Compared with x, X allele had a higher OR value of 2.25 （95% CI between 1.56-3.23）. There is no significant difference in Pvu Ⅰ polymorphism （P= 0. 081）,and no significant difference in the frequencies of P and p alleles between the patients and controls（P=0. 069）. Conclusion X allele is closely associated with a risk of occurrence of endometriosis.