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[Correlationship between congenital heart disease and polymorphism of MTHFR gene]

Dong Li, Kunkun Yu, Yanhui Ma

    Wei Sheng Yan Jiu = Journal of Hygiene Research
    |January 8, 2016
    PubMed

    Insights

    Genetic variations in methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with an increased risk of congenital heart disease (CHD). Joint effects between MTHFR polymorphisms also contribute to CHD risk.

    Area of Science:

    • Genetics
    • Cardiology
    • Molecular Biology

    Background:

    • Congenital heart disease (CHD) is a significant global health concern.
    • Genetic factors play a crucial role in the etiology of CHD.
    • Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in folate metabolism, and its genetic variations have been implicated in various diseases.

    Purpose of the Study:

    • To investigate the association between MTHFR gene polymorphisms (C677T, A1298C, G1793A) and the risk of congenital heart disease (CHD).
    • To explore potential joint effects of these MTHFR polymorphisms on CHD risk.

    Main Methods:

    • A case-control study was conducted with 150 isolated CHD cases and 150 controls.
    • Genotyping for MTHFR C677T, A1298C, and G1793A polymorphisms was performed using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.
    • Statistical analysis was used to compare genotype and allele frequencies between cases and controls.

    Main Results:

    • The MTHFR C677T heterozygote (CT) and homozygote (TT) genotypes significantly increased CHD risk (OR = 2.249, P = 0.003; OR = 3.121, P = 0.001, respectively).
    • The mutant allele for MTHFR C677T also increased CHD risk (OR = 1.813, P = 0.000).
    • The MTHFR A1298C heterozygote (AC) genotype increased CHD risk (OR = 2.177, P = 0.011), and the mutant allele C increased risk (OR = 2.017, P = 0.016).
    • No significant association was found for the MTHFR G1793A polymorphism.
    • Joint effects were observed between MTHFR C677T and A1298C, as well as between A1298C and G1793A.

    Conclusions:

    • Genetic polymorphisms in MTHFR C677T and A1298C are associated with an increased risk of developing CHD.
    • Combined effects of MTHFR C677T and A1298C, and MTHFR A1298C and G1793A polymorphisms may contribute to CHD susceptibility.
    Abstract

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