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The association between plasma homocysteine and coronary heart disease is modified by the MTHFR 677C>T polymorphism
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Other responses

  • Published on:
    The possible impact of lack of ethnic and geographical diversity on the association of MTHFR mutations, homocysteine levels and heart disease outcomes
    • Naveen L. Pereira, Consultant
    • Other Contributors:
      • Joyce E. Ball-Berry, and Eddie L. Green

    Methylenetetrahydrofolate reductase (MTHFR) plays an important role in conversion of homocysteine to methionine by catalyzing the production of 5-methyl tetrahydrofolate hence effectively decreasing plasma homocysteine levels. The MTHFR 677C>T nonsynonymous single nucleotide polymorphism (SNP) leads to a substitution of Valine for Alanine and results in the formation of a thermolabile variant of the enzyme with decr...

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    Conflict of Interest:
    None declared.