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[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 interaction and interaction between congenital anomalous C677T polymorphism in central nervous system (CNS) and environmental risk factors. [Method] The 1: 2 ratio of case-control study method. The polymorphism of MTHFR gene C677T was detected by polymerase chain reaction-rFLP in 88 children with CNS congenital malformations and 176 controls within ± 6 months of same sex, same place of residence and birth date. Environmental risk factors for regression screening were analyzed using a multifactorial model for interaction analysis. [Results] After adjusting for seven suspicious confounding factors such as mother’s exposure to pesticide during pregnancy and colds and fever during pregnancy, the mother carried the family history of T allele and congenital malformations, the father was exposed to toxic chemicals, the mother lost less meat, eggs, beans, Milk foods have positive additive model interactions. The relative risk of reciprocal effects (RERI) were 953%, 70%, 70% respectively, and the percentage of attributional interactions were 45.49%, 33.01% and 33.2% respectively. The effect index (S) were 1 91,1 5 7,1 61 respectively. [Conclusion] There is an additive model interaction between MTHFR gene C677T polymorphism and environmental risk factors, which is related to the occurrence of CNS congenital malformations.