The association of the MTHFR c.1625A>C genetic variant with the risk of congenital heart diseases in the Chinese

The purpose of this study is to investigate the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with the risk of congenital heart diseases (CHD). The genotypes of the MTHFR genetic variant were determined by the polymerase chain reaction-restriction fragment length poly...

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Published inGenetic testing and molecular biomarkers Vol. 19; no. 1; p. 44
Main Authors Wang, Yuting, Sun, Lei, Du, Weina, Song, Shuang, Wang, Shuo, Jiang, Weiju, Huang, Tianchu, Li, Hui
Format Journal Article
LanguageEnglish
Published United States 01.01.2015
Subjects
Asian Continental Ancestry Group
Case-Control Studies
Child, Preschool
China
Female
Genotype
Heart Defects, Congenital - genetics
Humans
Infant
Male
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Polymorphism, Restriction Fragment Length
Risk Factors
China
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Summary:The purpose of this study is to investigate the association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with the risk of congenital heart diseases (CHD). The genotypes of the MTHFR genetic variant were determined by the polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing methods. Our data suggested that the allelic and genotypic frequencies of CHD patients were significantly different from non-CHD controls. The MTHFR c.1625A>C genetic variant was significantly associated with the increased risk of CHD (CC vs. AA: odds ratio [OR]=2.29, 95% confidence interval [CI] 1.15-4.53, p=0.016; C vs. A: OR=1.47, 95% CI 1.11-1.96, p=0.008). Results from this study indicate that the MTHFR c.1625A>C genetic variant influences the risk of CHD in the studied population.
ISSN:1945-0257
DOI:10.1089/gtmb.2014.0253