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学科主题: 公共卫生
题名:
Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect
作者: 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
发表日期: 2005-02-01
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66777
Appears in Collections:北京大学公共卫生学院_期刊论文

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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

Recommended Citation:
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.
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