PAI-1基因多态性与不孕患者子宫内膜发育不良的遗传易感性研究

Association of genetic polymorphism in plasminogen activator inhibitor -I gene with endometrial hypoplasia ininfertile women

目的探讨纤溶酶原激活剂抑制物-1（plasminogen activator inhibitor-1，PAI-1）基因多态性与不孕患者的子宫内膜发育的相关性。方法选取经B超测量子宫内膜厚度及子宫内膜病理学检查诊断为子宫内膜发育不良不孕患者105例，有正常生育的健康非妊娠妇女85名，应用聚合酶链反应-限制性片段长度多态性分析技术检测PAL／基因-675位4G／5G多态性。结果患者组PAL／基因4G／4G基因频率（48．6％）和4G等位基因频率（66．2％）显著高于对照组（22．4％和47．1％）（P〈0．01）差异有统计学意义，与5G／5G基因型比较4G／4G型患者发生子宫内膜反应不良致不孕的相对风险率的比数比（oddsratio，OR）为4．9，95％的可信区间为2．10～10．12。结论PAL／基因4G／5G多态性与不孕患者的子宫内膜发育不良密切相关。

Objective To investigate the relationship between the plasminogen activator inhibitor（PAl-l） polymorphisms and endometrial hypoplasia in infertile women. Methods The study was conducted in 105 primary infertile patients with endometrial hypoplasia diagnosed by pathology and the thickness of endometrium by B-mode ultrasound and 85 controls who were not pregnant and had normal fertility. The - 675 4G/5G polymorphism in the PAI-1 gene was detected by polymerase chain reaction-restriction fragment length polymerphim analysis. Results The frequencies of 4G/ 4G genotype and 4G allele of thePAI-1 gene were higher in the patient group （48.6% and 66.2% ） than in the normal controls（22.4% and 47.1% ） （ P 〈 0.01 ）. The PAI-1 4G/4G genotype was significantly associated with endometrial hypoplasia in the infertile patients （OR= 4.9,95% CI： 2.10-10.12）. Conclusion The present findings suggest that the 4G/5G polymorphism of the PAI-1 gene was associated with endometrial hypoplasia in infertile patients.