雌激素受体α基因多态性及其表达与子宫内膜增生的关系

Association between Gene Polymorphism and Expression of Estrogen Receptor alpha in Endometrium and Endometrial Hyperplasia

目的:探讨子宫内膜增生症雌激素受体α(estrogen receptorα,ERα)基因多态性及其与表达的关系。方法:选择江西地区150例子宫内膜增生症患者为实验组,100例子宫内膜正常妇女为对照组。应用分子生物学的方法分析ERα基因XbaⅠ和PvuⅡ限制性片段长度多态性,通过逆转录-多聚酶链反应(RT-PCR)和Western blot方法分析ERα表达。结果:(1)X等位基因频率的变化与子宫内膜增生程度具有相关性P<0.01,不典型增生组中XX型频率是正常组的4倍。随着子宫内膜增生程度的增加,P等位基因频率减少,人群中PP基因型频率逐渐减少;(2)单纯性增生、复杂性增生ERαmRNA和蛋白表达均比正常组高(P<0.01),而不典型增生ERαmRNA和蛋白质表达均比单纯增生、复杂增生低(P<0.01)。结论:ERα基因多态性与子宫内膜增生发生及增生程度存在相关性。ERα表达的下调与子宫内膜不典型增生的发生有关。

Objective： To study on the association between gene polymorphism and expression of estrogen receptor alpha in endometrium and endometrial hyperplasia. Methods： 150 endometrial hyperplasia patients （including simple hyperplasia 50, complex hyperplasia 50,atypical hyperplasia 50） and 100 normal endometria persons （control group） were recruited.We used restriction fragment length polymorphism （RFLP） to determine Xba I and Pvu II gene Polymorphisms of ERa.Further more ERaprotein and mRNA expression levels were detected by Western blot and real-time quantitative PCR assay respective. Results： （1） Statistical analyses showed that there was a positive correlation between the expression of Xba I gene Polymorphisms and the degree of Endometrial hyperplasia, however a negative correlation between Pvu II gene Polymorphisms and the degree of Endometrial hyperplasia. （2） the ERamRNA and protein expression in simple hyperptasia and complex hyperplasia were higher than in control case （P〈0.01）. But the expression of ERarnRNA and its protein in atypical hyperplasia was lower than in simple hyperplasia ,complex hyperplasia and Control case （P〈0.01）. Conclusions： ERagene polymorphism is associated with endometrial hyperplasia ,＇X＇allele may be a dangerous factor and ＂P＂allele may be a proteetice factor for endometrial hyperplasia. Decreased expression of ERαmRNA and its protein might associated with atypical hyperplasia.