Maternal folate-related gene environment interactions and congenital heart defects.
Maternal folate-related gene environment interactions and congenital heart defects.
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DOI：
10.1097/aog.0b013e3181e80979
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发表时间：
2010-08
影响因子：
7.2
通讯作者：
MacLeod SL
中科院分区：
文献类型：
--
作者：
Hobbs CA;Cleves MA;Karim MA;Zhao W;MacLeod SL
研究受先天性心脏病（CHD）影响的妊娠妇女是否更可能在叶酸依赖途径中编码酶的基因中存在功能性单核苷酸多态性（SNP）。对572例CHD妊娠妇女和363例对照妇女进行了一项基于人群的病例对照研究。对DNA样品进行编码叶酸途径酶的三个基因中的SNP的基因分型。母亲的生活方式因素的信息，通过标准化的采访。与对照组女性相比，病例组女性肥胖的可能性（BMI为30或更高）高出1.5倍。携带MTHFR TT基因型的肥胖妇女怀孕受影响的可能性是携带CC基因型的正常体重妇女的4.6倍。携带一个或两个BHMT多态性A等位基因拷贝的肥胖妇女比携带BHMT GG基因型的正常体重妇女患CHD的可能性高1.8倍。在吸烟的妇女中，携带TCII CG或GG基因型的妇女比吸烟并携带CC基因型的妇女有1.8倍的可能性受到影响。在饮酒的妇女中，携带TCII CG或GG基因型的妇女比携带CC基因型的饮酒妇女有1.7倍的可能性受到影响。结果表明，叶酸相关基因的功能多态性增加了胎儿患冠心病的风险时，母亲的生活方式因素，改变叶酸代谢的存在。
To investigate whether women with congenital heart defect (CHD)-affected pregnancies were more likely to have functional single nucleotide polymorphisms (SNPs) in genes encoding enzymes in folate-dependent pathways. A population-based case-control study of 572 women with CHD-affected pregnancies and 363 control women was conducted. DNA samples were genotyped for SNPs in three genes encoding for folate pathway enzymes. Maternal lifestyle factor information was obtained using standardized interviews. Case women were 1.5 times more likely to be obese (BMI of 30 or higher) compared to control women. Obese women carrying the MTHFR TT genotype were 4.6 times more likely to have an affected pregnancy compared to normal weight women carrying a CC genotype. Obese women carrying one or two copies of the A allele in the BHMT polymorphism were 1.8 times more likely to have a CHD-affected pregnancy than normal weight women carrying a BHMT GG genotype. Among women who smoked, those carrying a TCII CG or GG genotype were 1.8 times more likely to have an affected fetus than women who smoked and carried a CC genotype. Among women who drank alcohol, those carrying a TCII CG or GG genotype were 1.7 times more likely to have an affected fetus than women who drank and carried a CC genotype. Results indicate that functional polymorphisms in folate-related genes increase the risk of having a fetus with CHD when maternal lifestyle factors that alter folate metabolism are present.