Fas-670位点单核苷酸多态性与胎膜早破的易感性

Fas-670 polymorphism and susceptibility to premature rupture of membranes

背景：研究表明，基因调控下胎膜细胞凋亡增加可导致胎膜早破，其根源也许是个体间某些基因的差异。因此，人群中不同的基因型有可能决定不同个体间Fas的表达与功能上的差异。目的：实验拟验证Fas基因-670位点多态性与胎膜早破遗传易感性的关系。设计、时间及地点：以病例一对照观察设计在2006—09／2007—09于温州医学院附属第三医院（瑞安市人民医院）妇产科分院实验室完成。参试者：本院收治的胎膜早破孕妇共65例，另择无胎膜早破孕妇120名作为正常对照组，两组孕妇均为单胎初产，排除急性风湿病、胶原疾病、肝病、其他感染及妊娠高血压综合征等并发症和合并症，胎膜早破诊断标准按丰有吉主编的7年制《妇产科学》中的相关标准。方法：采用聚合酶链反应-反向点杂交、DNA直接测序方法检测65例胎膜早破患者与120名正常对照的Fas基因-670多态性位点的基因型。主要观察指标：胎膜早破患者Fas基因-670多态性位点的GG、AG＋AA基因型出现的频率，等位基因A、G出现的频率。结果：胎膜早破患者的G等位基因频率明显高于正常对照组（x^2=4．633，P=0．031）。胎膜早破患者的AG、AA基因型频率与正常对照组相比差异无显著性意义（x^2值分别为0．934和1．258；P值分别为0．334和0．262），而胎膜早破患者的GG基因型频率明显高于正常对照组（x^2=5．266，P=0．022）。提示GG基因型者患胎膜早破的风险性明显高于AG、AA基因型者（OR=2．190，95％CI：1．113-4．3121。结论：Fas基因-670位点G等位基因及GG基因型可能是胎膜早破的易感因素。

BACKGROUND： Studies show that gene-mediated cell apoptosis increase of fetal membrane many lead to premature rupture of membranes （PROM）, which may be correlated with individual gene differences. Genotypes possibly determine the differences in individual Fas expression and function. OBJECTIVE： To investigate the relationship between Fas-670 polymorphism and susceptibility to PROM. DESIGN, TIME AND SETTING： The case-controlled observation was performed at the laboratory of Department of Obstetrics and Gynecology, Third Affiliated Hospital of Wenzhou Medical College between September 2006 and September 2007. PARTICIPANTS： Sixty-five gestational women with PROM admitted in Third Affiliated Hospital of Wenzhou Medical College were selected. In addition, 120 women with no PROM were included as controls. All the women were single birth and primiparity with no rheumapyra, collagen diseases, live disease, other infection diseases or edema-hypertension-proteinuria syndrome. PROM was confirmed according to the criteria of Obstetrics and Gynecology edited by Feng. METHODS： The Fas-670 genotypes were determined by polymerase chain reaction-reverse dot blot （PCR-RDB） and DNA direct sequencing in 65 patients with PROM and 120 unrelated healthy controls. MAIN OUTCOME MEASURES： The frequency of the Fas-670 G allele and A/G and A/A genotype distribution among PROM patients. RESULTS： The frequency of the Fas-670 G allele among PROM patients was significantly higher than that that among healthy controls （ x^2=4. 633, P=0.031 ）. The A/G and A/A genotype distribution among PROM patients was not significantly different from that among healthy controls （ x^2=0.934, 1.258; P=0.334, 0.262）. However, the GIG genotype frequency among PROM patients was significantly higher than that among healthy controls （ x^2=5.266, P=0.022）. The Fas-670 GIG genotype significantly increased the risk for developing PROM, compared to the combination of A/G and A/A genotypes （OR= 2.190, 95%CI：1.113-4.312）. CONCLUSION： The Fas gene-670 G allele and GG genotypes may play a role in susceptibility to premature rupture of membranes.