PAI-1、TGFβ1基因多态性与子宫内膜异位症相关性的研究  

Association of the PAI-1 and TGFβ1 polymorphisms with genetic susceptibility to endometriosis

作　　者：钱孟玲[1] 陈素琴[1] 刘宏[1] 

机构地区：[1]河北医科大学第二医院妇产科,石家庄050000

出　　处：《现代妇产科进展》2010年第3期189-193,共5页Progress in Obstetrics and Gynecology

摘　　要：目的:探讨PAI-1基因启动子区4G/5G和TGFβ1基因-509C/T基因多态性与中国河北省汉族育龄妇女Ⅲ、Ⅳ期EMs遗传易感性的关系。方法:用病例对照研究法,75例Ⅲ、Ⅳ期EMs患者与82例对照组的外周血白细胞为样本,用PCR-RFLP技术分析PAI-1基因启动子区4G/5G和TGFβ1基因-509C/T基因多态性分布频率。结果:PAI-1基因-6754G/5G的3种基因型:4G/4G、4G/5G、5G/5G在EMs组和对照组的分布频率分别为:69.3%,28.0%,2.7%;12.2%,31.7%,56.1%。4G/5G等位基因在两组的分布频率为83.3%,16.7%;28.1%,71.9%。两组差异有统计学意义(P<0.05)。TGFβ1基因-509C/T3种基因型:CC/CT/TT在EMs和对照组的分布频率分别为:10.7%,58.7%,30.7%;57.3%,41.5%,1.2%。C/T等位基因在两组的分布频率为40%,60%;78%,22%。两组差异有统计学意义(P<0.05)。结论:携带PAI-1基因启动子区-6754G等位基因增加了患Ⅲ、Ⅳ期EMs的危险性。携带TGFβ1基因-509T等位基因患Ⅲ、Ⅳ期EMs的危险性增加。Objective：To explore the possible association between polymorphism of PAI-1 and TGFβ1 gene and endometriosis.Method：PCR-RFLP technique was used to identify the PAI-1 and TGFβ1 gene polymorphism in Chinese endometriosis of Ⅲ,Ⅳ stage（n=75） and without endometriosis（n=82）.Results：Proportions of PAI-1-675 4G homozygote,4G/5G heterozygote,5G homozygote in the group of endometriosis were 69.3%,28.0%,2.7%,and in the control group were 56.1%,31.7%,12.2%,respectively.The percentage of PAI-1-675 4G/5G alleles in both groups were 83.3%,16.7% and 28.1%,72.9%,respectively（P0.05）.A statistic differences was found between the two groups.Proportions of TGFβ1-509 C homozygote,C/T heterozygote,T homozygote in the group of endometriosis were 10.7%,58.7%,30.7%,and in the control group were 57.3%,41.5%,1.2%,respectively.The percentage of TGFβ1-509 C/T alleles in both groups were 40%,60% and 78%,22%,respectively（P0.05）.A statistic differences was found between the two groups.Conclusion：PAI-1gene -675 4G polymorphism is associated with endometriosis of Ⅲ,Ⅳstage.TGFβ1 gene-509 T polymorphism may contribute to the genetic influence on stage Ⅲ,Ⅳ endometriosis.

关 键 词：子宫内膜异位症 基因多态性 聚合酶链反应 限制性片段长度多态性 纤溶酶原激活物抑制物-1 转化生长因子β1 

分 类 号：R711.71[医药卫生—妇产科学]