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目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因677TT基因型、孕期营养水平及其交互作用与先天性心脏病的关系。方法按照纳入和剔除标准随机选择先天性心脏病(简称“先心病”)144例病例与168例正常对照,采集外周静脉血,通过聚合酶链反应—限制性片段长度多态性(polymerase chain reaction restricted fragmentlength polymorphism,PCR-RFLP)检测MTHFR677TT基因型,并对其母亲孕期营养状况进行调查;采用单因素和多因素非条件Logistic回归模型,进行影响因素关联强度及交互作用分析。结果病例组和对照组MTHFR677TT基因型频率和T等位基因频率的差异有统计学意义(X~2=22.326,P<0.001;X~2=20.515,P<0.000 1),MTHFR677TT基因型与先心病风险的OR为3.215(95%CI:1.958～5.280);孕期肉类、奶类、绿色蔬菜类食物摄入差是先心病的危险因素,其OR值分别为3.360(95%CI:1.132～9.956)、3.823(95%CI:1.834～7.987)和2.368(95%CI:1.520～3.695);MTHFR677TT基因型与孕期三类食物摄入水平低之间具有正相加交互作用,调整混杂因素前后,TT基因型与肉类食物摄入差之间的I(AB)为2.138、2.244,AP(AB)为23.81%、24.33%,AP~*(AB)为25.72%、27.04%;与奶类食物摄入差之间的I(AB)为1.876、2.051,AP(AB)为17.29%、17.98%,AP~*(AB)为19.21%、20.54%;与绿色蔬菜摄入差之间的I(AB)为1.695、2.338,AP(AB)为20.40%、23.12%,AP~*(AB)为21.64%、26.06%。结论MTHFR677TT基因型是先心病的易感因素;孕期营养水平低是子代先心病发生的危险因素;MTHFR677TT基因型与富含叶酸食物摄入水平低对先心病具有协同作用。
Objective To investigate the relationship between 6,107TT genotypes of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, nutritional status during pregnancy and their interaction with congenital heart disease. Methods A total of 144 cases of congenital heart disease (“CHD”) and 168 normal controls were randomly selected according to inclusion and exclusion criteria. Peripheral venous blood was collected and analyzed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype of MTHFR677TT. The nutritional status of mothers during pregnancy was investigated. Univariate and multivariate non-conditional logistic regression models were used to analyze the association strength and interaction of influencing factors. Results The frequencies of MTHFR677TT genotype and T allele were significantly different between cases and controls (X ~ 2 = 22.326, P <0.001; X ~ 2 = 20.515, P <0.0001) The risk of heart disease was 3.215 (95% CI: 1.958-5.280). The difference in intake of meat, milk and green vegetables during pregnancy was a risk factor for CHD. The odds ratios for OR were 3.360 (95% CI: 1.132 ~ 9.956), 3.823 (95% CI: 1.834-7.987) and 2.368 (95% CI: 1.520-3.695). There was a positive interaction between the MTHFR677TT genotype and low intake of three kinds of food during pregnancy. Before and after adjusting the confounding factors (AB) was 2.138,2.244, the AP (AB) was 23.81% and 24.33%, AP ~ * (AB) was 25.72% and 27.04% I (AB) was 1.876, 2.051, AP (AB) was 17.29%, 17.98%, AP ~ * (AB) was 19.21%, 20.54% (AB) was 1.695 and 2.338, AP (AB) was 20.40% and 23.12%, AP ~ * (AB) was 21.64% and 26.06% respectively. Conclusions MTHFR677TT genotype is a predisposing factor for CHD. Low nutritional status during pregnancy is a risk factor for CHD. MTHFR677TT genotype is associated with systolic and diastolic heart disease with low intake of folic acid.