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Article

Biological and clinical implications of the MTHFR C677T polymorphism.

Trends in pharmacological sciences - 1 Apr 2001

Ueland P M, Hustad S, Schneede J, Refsum H, Vollset S E

Abstract excerpt

The enzyme methylenetetrahydrofolate reductase (MTHFR) directs folate species either to DNA synthesis or to homocysteine (Hcy) remethylation. The common MTHFR C677T polymorphism affects the activity of the enzyme and hence folate distribution. Under conditions of impaired folate status, the homozygous TT genotype has been regarded as harmful because it is associated with a high concentration of plasma total Hcy,...

Topics

Cardiovascular Diseases
Folic Acid
Genotype
Humans
Kidney Diseases
Methylenetetrahydrofolate Reductase (NADPH2)
Oxidoreductases Acting on CH-NH Group Donors
Polymorphism, Genetic
Risk Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 11282420
DOI: 10.1016/s0165-6147(00)01675-8

Genes

MTHFR

Variants

Provenance

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Biological and clinical implications of the MTHFR C677T polymorphism.PMID 11282420Read ↗

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MTHFR 677C->T genotype is associated with folate and homocysteine concentrations in a large, population-based, double-blind trial of folic acid supplementation.Semantic proximity Read ↗

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MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical ImplicationsSemantic proximity Read ↗

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Role of the MTHFR polymorphisms in cancer risk modification and treatment.Semantic proximity Read ↗

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