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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 investigate the genetic polymorphism of 4G / 5G and TGFβ1 gene -509C / T in promoter region of PAI-1 gene and genetic susceptibility to EMs in women of childbearing age in Han nationality in Hebei province of China. Methods: The peripheral blood leukocytes of 75 patients with stage Ⅲ and Ⅳ EMs and 82 controls were collected and analyzed by case-control study. The 4G / 5G and TGFβ1 -509C / T gene polymorphism distribution frequency. RESULTS: The frequencies of the three genotypes of PAI-1 gene-6754G / 5G: 4G / 4G, 4G / 5G and 5G / 5G were 69.3%, 28.0% and 2.7% , 31.7%, 56.1%. The distribution frequency of 4G / 5G allele in the two groups was 83.3%, 16.7%; 28.1%, 71.9%. The difference between the two groups was statistically significant (P <0.05). The distribution frequencies of TGFβ1 -509C / T3 genotypes: CC / CT / TT in EMs and control groups were 10.7%, 58.7%, 30.7%, 57.3%, 41.5% and 1.2%, respectively. C / T allele frequency distribution in the two groups was 40%, 60%; 78%, 22%. The difference between the two groups was statistically significant (P <0.05). CONCLUSION: The -6754G allele carrying PAI-1 gene promoter increases the risk of developing EMs in stages III and IV. The risk of developing stage Ⅲ and Ⅳ EMs with TGF-β1 -509T allele increases.