孕期疾病与5,10-亚甲基四氢叶酸还原酶基因对先天性心脏病影响的病例-对照研究  

Correlationship between congenital heart disease and MTHFR gene as well as illness during pregnancy:a case-control study

作　　者：李栋[1] 纪龙[1] 刘一志[1] 于坤坤[1] 王长林[2] 亓春花[2] 

机构地区：[1]泰山医学院流行病学研究所,山东泰安271016 [2]泰安市中心医院

出　　处：《中国预防医学杂志》2013年第8期586-589,共4页Chinese Preventive Medicine

基　　金：山东省自然科学基金项目(ZR2011HM018)

摘　　要：目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性、孕期疾病及其交互作用与子代先天性心脏病的关系。方法采用以医院为基础的病例对照研究设计,按照纳入和剔除标准选择144例先天性心脏病(先心病)病例与168例健康对照,通过聚合酶链反应-限制性片段长度多态性(polymerase chain reaction restricted fragment length polymorphism,PCR-RFLP)检测MTHFR C677T基因型,并对母亲孕期患病情况进行调查;采用单因素和多因素非条件logistic回归模型,分析影响因素关联强度及交互作用。结果病例组和对照组MTHFR 677TT基因型频率和T等位基因频率的差异有统计学意义(χ2=22.38,P<0.001;χ2=20.36,P<0.0001),MTHFR 677TT基因型与先心病风险的OR值为3.215(95%CI:1.958～5.280);妊高症、孕期感冒发烧是先心病的危险因素,其OR值分别为4.545(95%CI:1.788～11.553)、3.885(95%CI:1.756～8.592);MTHFR 677TT基因型与孕期两种疾病之间具有正相加交互作用,调整混杂因素前后,TT基因型与妊高症的I(AB)为5.469、6.011,AP(AB)为32.33%、33.67%,AP*(AB)为36.28%、37.54%;与孕期感冒发烧之间的I(AB)为4.165、5.951,AP(AB)为30.02%、31.36%,AP*(AB)为31.65%、33.38%。结论 MTHFR 677TT基因型是先心病的易感因素;妊高症、孕期感冒发烧是子代先心病发生的危险因素;MTHFR 677TT基因型与孕期两种疾病对先心病具有协同作用。Objective To study the correlationship between congenital heart disease and 5, 10-methylenetetra hydrofolate reductase （MTHFR） gene C677T polymorphism as well as illness during pregnancy, and to un- derstand their interaction in the occurring of congenital heart disease. Methods A case-control study was conducted in which 144 cases and 168 controls were selected according to the study criterions and blood samples were collected. The genotype of MTHFR C677T was determined by polymerase chain reaction restricted fragment length polymorphism （PCR-RFLP） . Mothers of all subjects were surveyed in terms of any diseases they suffered during pregnancy. The Logistic regression analysis was used to analyze the correlationship and interaction of the factors. Results The frequencies of MTHFR 677TT genotype and T allele identified in case group were both significantly different compared with control group （Χ^2= 22.38, P〈0. 001; Χ^2 = 20.36, P 〈0. 0001） . The Odds Ratio （OR） of MTHFR 677TT genotype with congenital heart disease was 3. 215 （95 % CI： 1. 958-5. 280） . Pregnancy-induced hypertension syndrome （PIH） and cold/fever during pregnancy were risk factors of congenital heart disease with the OR of 4. 545 （95% CI： 1. 788-11. 553） and 3. 885 （95% CI： 1. 756-8. 592） . The interaction analysis showed that when combined with PIH and/or cold/fever,677TT genotype of MTHFR could have more positive adding effect on the occurring of congenital heart disease. After the adjustment of confounding factors, the I （AB） , AP （AB） and AP ＊ （AB） of MTHFR 677TT genotype with PIH were 5.469 and 6.011, 32.33% and 33.67%, 36.28% and 37.54%, respectively. While, the I （AB） , AP （AB） and AP＊ （AB） of MTHFR 677TT genotype with cold/fever during pregnancy were 4. 165 and 5. 951, 30.02% and 31.36%, 31.65% and 33.38%, respectively. Conelusions The MTHFR 677TT genotype is a major risk factor of congenital heart disease, and when combined with other factors as PIH or cold/fever du

关 键 词：先天性心脏病 孕期疾病 亚甲基四氢叶酸还原酶基因多态性 病例对照研究 交互作用 

分 类 号：R714.7[医药卫生—妇产科学]