MTHFR基因、CBS基因、环境因素与先天性心脏病的病例对照研究

仇小强; 钟秋安; 曾小云; 李永红; 聂绍发

文章摘要

仇小强,钟秋安,曾小云,李永红,聂绍发.MTHFR基因、CBS基因、环境因素与先天性心脏病的病例对照研究[J].中华流行病学杂志,2006,27(3):260-263

MTHFR基因、CBS基因、环境因素与先天性心脏病的病例对照研究

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

收稿日期:2005-08-25 出版日期:2014-09-12

DOI：

中文关键词: 先天性心脏病亚甲基四氢叶酸还原酶胱硫醚β-合酶基因环境因素

英文关键词: Congenital heart disease Methylenetetrahydrofolate reductase Cystathionine β-synthase Gene Environmental factors

基金项目:广西壮族自治区自然科学基金资助项目(0448049)

作者	单位
仇小强	华中科技大学同济医学院公共卫生学院流行病学与卫生统计学系 430030武汉
钟秋安	广西医科大学公共卫生学院流行病学教研室 530021南宁
曾小云	广西医科大学公共卫生学院流行病学教研室 530021南宁
李永红	广西医科大学公共卫生学院流行病学教研室 530021南宁
聂绍发	华中科技大学同济医学院公共卫生学院流行病学与卫生统计学系 430030武汉

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中文摘要:

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个因素为子代发生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。

英文摘要:

Objective To explore congenital heart diseases (CHD) in their offsprings in association with parental methylenetetrahydrofolate reductase (MTHFR) gene C677T,cystathionineβ-synthase (CBS) gene T833C,and environmental factors. Methods A 1∶1 case-control study was carried out to investigate 115 pairs of case and controled 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.

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