纤溶酶原激活剂抑制剂-1基因4G/5G多态性与卵巢早衰相关性研究

目的探讨纤溶酶原激活剂抑制剂-1(PAI-1)基因启动子区4G/5G多态性与卵巢早衰(POF)发病的相关性。方法应用聚合酶链反应—限制性片段长度多态性分析,检测了83例POF患者(POF组)和56例正常妇女(对照组)的PAI-1基因4G/5G多态性;经阴彩色多普勒检测卵巢大小、卵巢动脉内径、RI指数。结果(1)POF组PAI-1基因分布:4G/4G型为38.6%,4G/5G型为47%,5G/5G型为14.4%;POF组4G等位基因频率(0.621)和4G/4G型频率(38.6%)显著高于正常对照组(0.455和16.1%)(P(0.01)。(2)POF组卵巢大小(2.03 cm×1.1 cm)明显小于对照组(2.9 cm×2.3 cm),卵巢动脉内径明显小于对照组,而卵巢动脉血流阻力指数(0.72±0.04)明显高于对照组(0.47±0.04)。(3)4G/4G基因型妇女发生POF的相对风险率的比数比为3.28,95%的可信区间为1.45~7.43。结论PAI-1基因4G/5G多态性与POF的发病密切相关,纯合子4G/4G基因型可能是POF发病的重要危险因素之一。

Study of the relationship between 4G/5G ploymorphism of the plasminogen activator inhibitor-1 gene and premature ovrarian failure

Objective:To study the relationship between the 4G/5G polymorphism in promotor region of the plasminogen activator inhibitor-1 gene and the occurrence of premature ovarian failure(POF).Methods:83 cases with POF(POF group) and 56 health women(control group) were detected of 4G/5G polymorphism of PAI-1 gene with PCR-RFLP method.Their ovary sizes,inner diameter of the ovarian artery and resistance index(RI) were detected with transvaginal color doppler imaging.Results:(1) The genotype frequencies of PAI-1 in POF group are 38.6%(4G/4G),47.0%(4G/5G) and 14.4%(5G/5G),respectively.The 4G allele frequency(0.621) and the 4G/4G genotype frequency in POF group is significantly higher than the control group(0.455 and 16.1%,respectively)(P<0.001).(2)The ovarian sizes of the POF group are significantly smaller than the controls,and the inner diameter of the ovarian artery are also significantly smaller than the controls,while the RI of POF are higher than the controls.(3) women with 4G/4G genotype are more inclined to suffer POF,the odds ratio is 3.28(95%CI 1.45~7.43).Conclusion:The occurrence of POF is closely correlated with the 4G/5G polymorphism of PAI-1 gene,and the 4G/4G genotype maybe one of the important risk factors for the occurrence of POF.