孕期化学物接触及基因多态性与先天性心脏病

目的 探讨5,10-亚甲基四氢叶酸还原酶MTHFR基因C677T多态性和孕期接触化学物与先天性心脏病的关系.方法 采用病例-对照研究设计,选择144例病例和168例对照,采用面访法和聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)进行检测,运用多因素Logistic回归模型分析MTHFR基因C677T多态性与孕期化学物接触对先心病的作用强度和交互作用.结果 MTHFR677TT基因型发生先天性心脏病的风险是MTHFR677CT或CC基因型的3.215倍(95%CI=1.958~5.280);孕期化学物接触与子代先天性心脏病关联强度OR值为2.150(95%CI=1.041~4.442);MTHFR677TT基因型与孕期化学物接触具有正相加交互作用,交互作用的效应量(RERI)、归因交互效应百分比[AP(AB)]和纯因子间归因交互效应百分比[AP*(AB)]分别为4.938,60.23%,68.59%.结论 MTHFR基因C677T变异可与孕期接触化学物协同增加子代罹患先心病的危险性.

Correlations between MTHFR gene polymorphism,exposure to chemicals during pregnancy and congenital heart disease

Objective To explore correlations between 5,10 methy lenetetrahydro folate reductase(MTHFR)s C677T genetic pointmutation,exposure to chemicals during pregnancy and congenital heart disease(CHD).Methods A total of 144 cases and 168 controls were selected for the case control study and MTHFRC677T genotype was determined by poly merase chain reaction restricted fragment length polymorphism(PCRRFLP).Indicators of quantitative analysis for the in tensity of interaction between MTHFR gene C677TT and exposure to chemicals were analyzed with stratified Logistic multiplicative regression.Results The risks of CHD for subjects with geno type MTHFR 677TT was 3.215 times(95% CI:2.042 -5.784)higher than the subjects with genotype MTHFR 677CT or CC.The OR of CHD for exposure to chemicals during pregnancy was 2.150(95% CI:1.958-5.280).There was additive interaction effect between genotype MTHFR 677TT and exposure to chemicals during pregnancy.The relative excess risk due to interaction(RERI),the a ttributable proportion due to interaction[AP(AB)]and the proportion of in teraction effect between purefactors[AP*(AB)]were 4.938,60.23%,68.59%,respectively.Conclusion The in teraction of MTHFRC677T genetic point mutation and exposure to chemicals during pregnancy may increase the risks of CHD of off spring in pregnant women.