PAI-1、TGFβ1基因多态性与子宫内膜异位症相关性的研究

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(P0.05)。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(P0.05)。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。

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

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(P<0.05).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(P<0.05).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.