MTHFR基因、CBS基因、环境因素与先天性心脏病的病例对照研究

目的 探讨父母亚甲基四氢叶酸还原酶（MTHFR）基因C677T、胱硫醚β-合酶（CBS）基因T833C、环境因素与子代先天性心脏病（CHD）发生之间的关联。方法 采用1：1配对病例对照研究方法，分析115对CHD患儿与对照儿父母的环境暴露因素，并检测其MTHFR与CBS基因型，对CHD可能的危险因素进行单因素及多因素条件logistic回归分析。结果 母亲怀孕早期接触农药（OR=8．62）、妊娠合并症（OR=2．069）、孕早期感冒（OR=4．125）、孕期情绪状况（OR=4．653）、母亲MTHFR基因677TT型（OR=3．872）共5个因素为予代发生CHD的危险因素。结论 母亲MTHFR基因677TT型与子代CHD发生有关，未发现父母CBS基因T833C与子代CHD存在关联，母亲怀孕早期接触农药、妊娠合并症、孕早期感冒、孕期情绪紧张或忧郁可能增加子代发生CHD的危险。

A case-control study on congenital heart diseases with methylenetetrahydrofolate reductase gene, cystathionine β-synthase gene,and environmental factors

OBJECTIVE: To explore congenital heart diseases (CHD) in their offsprings in association with parental methylenetetrahydrofolate reductase (MTHFR) gene C677T, cystathionine beta-synthase (CBS) gene T833C, and environmental factors. METHODS: A 1:1 case-control study was carried out to investigate 115 pairs of case and controlled children and their parents, and the parents' MTHFR gene 677 C-->T mutation and CBS gene 833 T-->C mutation were also identified. The possible risk factors were analysed by simple and multiple factors logistic regression methods. RESULTS: Results revealed that 5 factors were related to the occurrence of CHD in the offsprings: maternal exposures to pesticides in the early stage of pregnancy (OR = 8.62), suffering from diseases during pregnancy (OR = 2.069), catching cold in the early stage of pregnancy (OR = 4.125), under depressed or nervous condition during pregnancy (OR = 4.653), maternal MTHFR 677TT genotype (OR = 3.872). CONCLUSION: These results suggested that maternal MTHFR 677TT genotype was one of the risks to the occurrence of CHD in offspring but parents' CBS gene 833 T-->C mutation did not get involved in CHD. In addition, the occurrence of CHD was related to maternal exposures to pesticides, catching a cold, suffering from diseases, depressed or under nervous condition in the early stage of pregnancy or during pregnancy.