非综合征性唇腭裂的环境与基因多态性分析及归因危险度估算  

Estimation of the PAR and analysis of environmental exposure and gene polymorphisms to NSCL/P

作　　者：周小平 王海琦 万伟东[2] 王小宁 刘嘉茵 周德兰 王丽君[2] 

机构地区：[1]南京医科大学第一附属医院江苏省妇幼卫生保健中心妇保科,210036 [2]东南大学医学院附属中大医院

出　　处：《中国优生与遗传杂志》2005年第12期36-37,39,共3页Chinese Journal of Birth Health & Heredity

基　　金：江苏省卫生厅医学科技发展基金会;苏卫科基(2003)2号(编号:Z200312)

摘　　要：目的探讨环境暴露、MTHFR、TGFα多态性与NSCL/P的关系及估算其归因危险度。方法选择76例NSCL/P患儿(病例组)和60例非NSCL/P儿童(对照组),调查环境、遗传因素,用PCR-RFLP检测MTHFR基因C677T和A1298C、TGFα基因Taq I基因型,进行多因素Logistic回归分析,计算人群归因危险度。结果分析显示孕早期感染史、孕早期服药史、MTHFR基因C677T、A1298C、TGFαTaq I位点多态性均与NSCL/P有关(P<0.05),比值比OR分别为4.524、4.246、4.387、2.263、2.565,人群归因危险度百分比分别为0.277、0.262、0.640、0.235、0.225,5个因素综合归因危险度百分比为0.886。结论孕早期感染史、孕早期服药史、MTHFR基因C677T、A1298C及TGFα基因Taq I多态性是NSCL/P的重要易感因素,人群综合归因危险度表明NSCL/P是环境与遗传因素共同作用而发生的。Objective： To investigate the effect of the environmental exposure , gene polymorphisms to NSCL/P , and to estimate the PAR of them. Methods ： 76 patients with NSCL/P and 60 subjects without NSCL/P were investigated environmental exposure and genetic factors, their genotypes of C677T, A1298C on MTHFR and Taq Ⅰ on TGFα were detected by PCR - RFLP, Multifactor Logistic regression was used to analyses the results of investigation and detection. Results： History of infection and overdose in early - pregnancy, polymorphism of C677T and A1298C on MTHFR, Taq Ⅰ on TGFα were related with NSCL/P（ P 〈 0.05）, their OR were 4.524,4.24.6,4.387,2.263,2.565 and PAR were 0. 277,0. 262,0. 640,0. 235,0. 225 respectively. The synthetic PAR was 0. 886. Conclusion： History of infection and overdose in earlypregnancy, polymorphism of C677T , A1298C and TGFα Taq Ⅰ were the important susceptible factors , The synthetic PAR suggests that the NSCL/P occurrence be related with affection both of environmental exposure and gene polymorphisms .

关 键 词：非综合征性唇腭裂 环境 基因多态性 人群归因危险度 

分 类 号：R782.2[医药卫生—口腔医学]