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Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect
Cheng, J; Zhu, WL; Dao, JJ; Li, SQ; Li, Y
关键词methylenetetrahydrofolate dehydrogenase gene polymorphism congenital heart disease homocysteine folic acid
刊名BIOMEDICAL AND ENVIRONMENTAL SCIENCES
2005-02-01
18期:1页:58-64
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Environmental Sciences ; Public, Environmental & Occupational Health
研究领域[WOS]Environmental Sciences & Ecology ; Public, Environmental & Occupational Health
关键词[WOS]METHENYLTETRAHYDROFOLATE-CYCLOHYDROLASE ; FORMYLTETRAHYDROFOLATE SYNTHETASE ; TRIFUNCTIONAL ENZYME ; RISK
英文摘要

Objective To investigate the relationship between G1958A gene polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD) and occurrence of congenital heart disease (CHD) in North China. Methods One hundred and ninety-two CHD patients and their parents were included in this study as case group in Liaoning Province by birth defect registration cards, and 124 healthy subjects (age and gender matched) and their parents were simultaneously selected from the same geographic area as control. Their gene polymorphism of MTHFD G1958A locus was examined with PCR-RFLP, and serum folic acid and homocysteine (Hcy) levels were tested with radio-immunoassay and fluorescence polarization immunoassay (FPIA). Results There existed gene polymorphism at MTHFD G1958A locus in healthy subjects living in North China. The percentages of GG, GA, and AA genotype were 57.98%, 35.57%, and 6.45% respectively, and the A allele frequency was 24.23%, which was significantly different from Western population. No difference was observed when comparing genotype distribution and allele frequency between the case and control groups, so was the result from the comparison between genders. The A allele frequency of arterial septal defect patients′ mothers (10.87%) was significantly lower than that of controls (28.15%) (P=0.014), with OR=0.31 (95% CI: 0.09-0.84), and no difference in the other subgroups. The percentage of at least one parent carrying A allele in arterial septal defect subgroup (43.48%) was significantly lower than that in controls (69.64%) (P=0.017), with OR=0.34 (95% CI: 0.12-0.92). The analysis of genetic transmission indicated that there was no transmission disequillibrium in CHD nuclear families. Their serum folic acid level was significantly higher than that of controls (P=0.000), and Hcy level of the former was higher than that of the latter with no statistical significance (P>0.05). Serum Hcy and folic acid levels of mothers with gene mutation were lower than those of mothers with no mutation. Conclusion No significant difference of genotype distribution and allele frequency existed between CHD patients and healthy population. MTHFD G1958A mutation in parents (particularly in mother) can decrease the risk of arterial septal defect in offspring. The possible mechanism of protection might be mutation, which can increase MTBFD enzyme activity, folic acid metabolism and homocysteine remethylation, and decrease Hcy level.

语种英语
WOS记录号WOS:000226969000011
引用统计
被引频次:14[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66777
专题北京大学公共卫生学院
作者单位1.Peking Univ, Sch Publ Hlth, Dept Nutr & Food Hyg, Beijing 100083, Peoples R China
2.China Med Univ, Hosp 2, Shenyang 110001, Liaoning, Peoples R China
推荐引用方式
GB/T 7714
Cheng, J,Zhu, WL,Dao, JJ,et al. Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect[J]. BIOMEDICAL AND ENVIRONMENTAL SCIENCES,2005,18(1):58-64.
APA Cheng, J,Zhu, WL,Dao, JJ,Li, SQ,&Li, Y.(2005).Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect.BIOMEDICAL AND ENVIRONMENTAL SCIENCES,18(1),58-64.
MLA Cheng, J,et al."Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect".BIOMEDICAL AND ENVIRONMENTAL SCIENCES 18.1(2005):58-64.
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