汉、维族子宫内膜异位症与雌激素受体基因多态性的关系

目的:观察雌激素受体(ER)基因多态性在新疆维吾尔族(维族)及汉族妇女中的分布及其与子宫内膜异位症(内异症)的关系。方法:应用PCR-RFLP技术,分别检测107名维吾尔族健康妇女(维族对照组)及65例内异症患者(维族内异症组),105名汉族健康妇女(汉族对照组)及85例内异症患者(汉族内异症组)的ER基因XbaⅠ和PvuⅡ酶切多态性。结果:ER基因型频率分布符合Harey-weinberg平衡定律。XbaI酶切多态性基因型频率,等位基因频率分别在维、汉族内异症组及对照组比较,差异无显著性(P>0.05)。但PvuⅡ酶切多态性基因型频率,等位基因频率在维族内异症组与对照组间比较,差异均有显著性(P<0.05),在汉族内异症组与对照组之间比较,差异无显著性(P>0.05)。维、汉族的内异症组和对照组比较,两内异症组的PvuII多态性和两对照组的XbaI多态性差异均有显著性(P<0.05)。结论:ER XbaⅠ酶切多态性与维、汉族内异症发病均无关,而PvuⅡ酶切多态性与维族内异症发病有关,与汉族无关。维、汉族内异症发病可能存在不同的遗传易感因素,PvuⅡ基因多态性可能是维族妇女子宫内膜异位症发病的危险因素之一。

Relationship between estrogen receptor gene polymorphism and endometriosis in the Uygurs and Hans in Xinjiang

Objective:To investigate the distribution of estrogen receptor(ER) gene polymorphisms between the Uygurs and the Hans in Xinjiang and the association of the polymorphisms with endometriosis in the Uygurs and the Hans.Methods:172 Uygurs women(65 cases and 107 controls)and 190 Han women(85 cases and 105 controls)were investigated.XbaI and PvuII polymorphisms of ER gene were detected by polymerase chain-reaction restriction fragment length polymorphism(PCR-RFLP)in genome DNA.The data were analyzed by χ~2 test.Results:XbaI polymorphism had no significant difference in frequencies of allele and genotype in endometriosis group and control group of the Uygurs and the Hans(P>0.05).The distribution of PvuⅡ polymorphism had also no significant difference in the Hans(P>0.05).However,there were significant difference of the distribution of PvuⅡ genotypes(P=0.014) and the frequencies of Pp alleles(P=0.039) between endometriosis group and control group of the Uygurs.There was significant difference in PvuⅡ polymophisms(P=0.000) and in XbaI polymorphism between the endometriosis group and the control in both the Uygurs and the Hans.(P=0.009).Conclusion:Uygurs and Hans have different genetic predisposing factors to the development of endometriosis,and PvuⅡ polymorphism might be one of risk factors for endometriosis in the Uygurs.