Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

American journal of human genetics - 1 Jan 1996

Kluijtmans L A, van den Heuvel L P, Boers G H, Frosst P, Stevens E M, van Oost B A, den Heijer M, Trijbels F J, Rozen R, Blom H J

Abstract excerpt

Mild hyperhomocysteinemia is an established risk factor for cardiovascular disease. Genetic aberrations in the cystathionine beta-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) genes may account for reduced enzyme activities and elevated plasma homocysteine levels. In 15 unrelated...

Topics

Alleles
Amino Acid Metabolism, Inborn Errors
Base Sequence
Cardiovascular Diseases
Confidence Intervals
Cystathionine beta-Synthase
DNA Primers
Genotype
Homocysteine
Humans
Methylenetetrahydrofolate Reductase (NADPH2)

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Oxidoreductases Acting on CH-NH Group Donors

Point Mutation

Polymerase Chain Reaction

Prevalence

Reference Values

Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 8554066
PMCID: PMC1914961

Genes

CBS
MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8554066-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.PMID 8554066Read ↗

Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: the result of a meta-analysis.Semantic proximity Read ↗

Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase.Semantic proximity Read ↗

Methylenetetrahydrofolate reductase C677T mutation, plasma homocysteine, and folate in subjects from northern Italy with or without angiographically documented severe coronary atherosclerotic disease: evidence for an important genetic-environmental interaction.Semantic proximity Read ↗

Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine metabolism and late-onset vascular disease.Semantic proximity Read ↗

Mutation A1298C of methylenetetrahydrofolate reductase: risk for early coronary disease not associated with hyperhomocysteinemia.Semantic proximity Read ↗

Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases.Semantic proximity Read ↗

Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919, CBS T-->c833) are not associated with myocardial infarction in African Americans.Semantic proximity Read ↗

A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk.Semantic proximity Read ↗

Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: impact on plasma homocysteine levels and development of coronary artery disease.Semantic proximity Read ↗

Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease.Semantic proximity Read ↗

Genetic analysis of the thermolabile variant of 5, 10-methylenetetrahydrofolate reductase as a risk factor for ischemic stroke.Semantic proximity Read ↗

Thermolabile methylenetetrahydrofolate reductase in coronary artery disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.