中枢神经系统先天畸形基因多态性与环境因素的交互作用分析  

Interaction Analysis between MTHFR C677T Polymorphism and Environmental Risk Factors of Central Nervous System Congenital Malformations

作　　者：赵仲堂[1] 高莉洁[1] 李栋[2] 姜宝法[1] 郝凤荣[1] 冯月秋[1] 周凤荣 

机构地区：[1]山东大学公共卫生学院流行病与卫生统计学研究所,山东济南250012 [2]泰山医学院预防医学教研室,山东泰安271000 [3]山东省妇幼保健所,山东济南250014

出　　处：《预防医学论坛》2005年第1期3-5,共3页Preventive Medicine Tribune

基　　金：山东省"十大示范工程"项目(0 4 0 10 173)

摘　　要：[目的 ]探讨中枢神经系统 (CNS)先天畸形C677T多态性与环境危险因素之间是否存在交互作用及交互作用的模式与强度。 [方法 ]采用 1∶2配比病例对照研究方法。对 88例CNS先天畸形患儿病例及同性别、同一居住地区、出生日期± 6个月的 176名对照 ,以PCR -RFLP的方法进行MTHFR基因C677T的多态性检测 ,与以多因素条件Logistic回归方法筛选的环境危险因素运用多因素模型进行交互作用分析。 [结果 ]在调整了母亲孕期接触农药、孕期感冒发热等 7个可疑的混杂因素后 ,母亲携带T等位基因与先天畸形家族史、父亲接触有毒化学物、母亲孕期少食肉、蛋、豆、奶类食物有正相加模型交互作用。交互效应超额相对危险度 (RERI )分别为 9 5 3、3 70、1 5 1,归因交互效应百分比 (AP )分别为 45 49%、3 3 0 1%、3 0 3 2 % ;效应指数 (S )分别为 1 91、1 5 7、1 61。 [结论 ]MTHFR基因C677T多态性与环境危险因素之间存在相加模型交互作用 ,与CNS先天畸形的发生相关。Objective]To explore the interactions between MTHFR C677T polymorphism and environmental risk factors of CNS congenital malformations. [Methods]A 1∶2 matched case-control study was conducted with 88 CNS congenital malformations cases collected from 13 hospitals of birh defects surveillance in Shandong province and 176 matched controls.The mathching factors included gender, living district, date of birth (±6 months). MTHFR C677T polymorphism was deceted by PCR-RFLP technique and their interactions with the selected environmental risk factors were analyzed by the multivariable Logistic regression models.[Results]After adjustment of seven potential confounding factors, T alleles and congenital malformations family history, paternal exposure to toxic chemical materials, less consumption of meat,eggs,beans and milk during pregnancy have positive additive model interactions. The relative excess risk due to interactions (RERI) is 9.53、3.70、1.51, the attributable proportion due to interaction (AP) is 45.49%、33.01%、30.32% and the synergy indexs(S) is 1.91、1.57、1.61 respectively.[Conclusions]The interactions between MTHFR C677T polymorphism and environmental risk factors are statistically correlated with central nervous system congenital malformations.

关 键 词：中枢神经系统 先天畸形 危险因素 MTHFR基因 交互作用 基因多态性 环境因素 CNS 遗传因素 

分 类 号：R741[医药卫生—神经病学与精神病学]