雌激素受体基因多态性与子宫肌瘤的相关性研究

The study on the relationship between polymorphism of estrogen receptor-alpha gene and leiomyomata

目的探讨雌激素受体-α(ERα)基因多态性与子宫肌瘤发病的相关性。方法应用聚合酶链反应(PCR)和限制性片断长度多态性分析(RFLP)检测86例子宫肌瘤患者(肌瘤组)和80例非子宫肌瘤女性患者(对照组)的ERα基因型,应用免疫组织化学SP法检测子宫肌瘤患者肌瘤组织与正常子宫肌层组织的雌激素受体(ER)、孕激素受体(PR)。结果 83例子宫肌瘤患者及78例对照组患者中鉴定出PvuII、XbaI基因型多态性,肌瘤组和对照组PvuII的pp、pP、PP基因型频率分别为42.2%vs.39.7%,44.6%vs.48.7%,13.2%vs.11.5%,两组比较无显著性差异(P>0.05);两组XbaI的xx、xX、XX基因型频率分别为59.0%vs.56.4%,37.1%vs.41.0%,3.6%vs.2.6%,两组比较无显著性差异(P>0.05)。基因频率分布符合遗传平衡。肌瘤组织中ER、PR阳性率较正常肌层组织均明显增高(P<0.05);同一组织内,PR阳性率显著高于ER阳性率(P<0.05)。结论 ERα基因多态性可能与子宫肌瘤的发病无关。

Objective To determine whether the polymorphism of estrogen receptor-alpha gene（ERα） is associated with leiomyomata in Shanghai Chinese Han population.Methods The polymorphisms of the ERα gene was determined by polymerase chain reaction（PCR） and restricted fragment-length polymorphism（RFLP） analysis in 86 leiomyomata patients and 80 normal controls respectively.Leiomyomata and myometrial tissue were obtained for immunohistochemical ER and PR analysis using monoclonal antibody.Results The genotype frequencies of PvuII pp Pp PP were 42.2%,44.6%,13.2%,and XbaI xx Xx XX were 59.0%,37.1%,3.6% in patients with leiomyomata.The genotype frequencies of PvuII pp Pp PP were 39.7%,48.7%,11.5% and those of XbaI xx Xx XX were 56.4%,41.0%,2.6% in the controls respectively.The genotype frequencies of PvuII and XbaI polymorphisms in all patients were similar to those in the controls,no significant difference in the frequency of either PvuII or XbaI polymorphisms in the ERα gene were found between the leiomyomata patients and the controls（P 0.05）.Allele frequencies were in Hardy-Weinberg equilibrium in both the control and patient groups.The positive rates of ER and PR of the leiomyoma tissues were significantly higher than those in normal myometrial tissue（P 0.05）.In the same tissue,the posivie rates of PR was significantly higher than ER（P 0.05）.Conclusion Polymorphism in the gene encoding for ERα is not correlate with the occurrence of leiomyomata in Shanghai Chinese Han population.