Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease. Evidence that all three MTHFR C677T genotypes confer different levels of risk | Zendy

Leo A. J. Kluijtmans | Zendy; Alexander S. Whitehead | Zendy

Open Access

Methylenetetrahydrofolate reductase genotypes and predisposition to atherothrombotic disease. Evidence that all three MTHFR C677T genotypes confer different levels of risk

Author(s) -

Leo A. J. Kluijtmans,

Alexander S. Whitehead

Publication year - 2001

Publication title -

european heart journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.336

H-Index - 293

eISSN - 1522-9645

pISSN - 0195-668X

DOI - 10.1053/euhj.2000.2239

Subject(s) - methylenetetrahydrofolate reductase , genotype , homocysteine , medicine , allele , gastroenterology , risk factor , genotype frequency , allele frequency , genetics , endocrinology , biology , gene

Elevated plasma homocysteine is an independent risk factor for atherothrombotic disease. Individuals homozygous for the methylenetetrahydrofolate reductase (MTHFR) 677C allele exclusively accumulate 5methyltetrahydrofolate, the methyl donor for homocysteine remethylation, in their red blood cells; this contrasts with 677 TT homozygotes who also accumulate significant levels of non-methylated folate derivatives. Those with the MTHFR 677 TT, CT and CC genotypes may therefore differ qualitatively with respect to folate utilization and hence their capacity to remethylate homocysteine. This study was consequently designed to establish whether all three genotypes confer different levels of atherothrombotic risk.

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