雌激素受体α基因多态性与子宫内膜异位症的相关性

目的探讨雌激素受体α（Estrogen receptorα ERα）基因多态性与子宫内膜异位症（Endometriosis EM）发病的相关性。方法选取107例经开腹或腹腔镜手术治疗后,病理确认为子宫内膜异位症的患者作为实验组,选取健康体检者80例作为正常对照组。提取DNA,采用聚合酶链式反应-限制性片段长度多态性（Polymerase chain reaction-restriction fragment length polymor-phism PCR-RFLP）的方法,检测ERα基因XbaⅠ和PvuⅡ位点多态性。结果 ERα基因多态性显示ERα-XbaⅠ基因多态性在子宫内膜异位症组与对照组间的分布则有显著性差异（P=0.039）,XX/Xx样本组51（47.66%）,对照组25（31.25%）,两者有显著性差异（P=0.024）。X等位基因患EM的风险是x等位基因的2.00倍（OR=2.00,95%CI：1.09-3.67）。而ERα-PvuⅡ基因多态性在EM与对照组间的分布差异无显著性,（P=0.285）。结论 ERα-XbaⅠ基因多态性在子宫内膜异位症组与对照组间的分布则有显著性差异（P=0.039）。提示ERα-XbaⅠ基因多态性与EM发病相关。

Association of estrogen receptor alpha gene polymorphisms with endometriosis

Aim To determine whether the polymorphisms of estrogen receptor alpha(ERα) is associated with endometriosis in a Chinese population.Method 107 women diagnosed with endometriosis by laparotomy or laparoscopy were taken as study group,and 80 women who had health examination to eliminate the gynecological disease were taken as control group.We extracted the DNA,then used PCR-RFLP to examine the XbaⅠand PvuⅡ gene polymorphism in ERαgene.Results We found a statistically significant difference between the patients and the controls in the frequency of the XbaⅠ polymorphism(P=0.039).XX/Xx in patients 51(47.66%),in controls 25(31.25%),they had significant difference(P=0.024).The odds ratio(OR) for X allele was 2.00 times(OR=2.00,95% CI:1.09~3.67).But the gene polymorphism of PvuⅡdid not have the statistically significant difference between the endometriosis group and control group(P=0.285).We concluded that variability of the ERα-XbaⅠgene likely contributed to the pathogenesis of endometriosis.Conclusion The frequency of XbaⅠ polymorphism has the statistically significant difference between the patients and the controls,and X allele is possibly the predisposing gene in the development of EM.