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Mol Diagn. 1997 Mar;2(1):61-68.

Risk of Venous Thrombosis in Carriers of a Common Mutation in the Homocysteine Regulatory Enzyme Methylenetetrahydrofolate Reductase.

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  • 1Department of Pathology, Oregon Health Sciences University, Portland, Oregon


Background: Elevated levels of homocysteine are an independent risk factor for venous thrombosis. A common mutation in methylenetetrahydrofolate reductase (MTHFR), an enzyme required for efficient homocysteine metabolism, creates a thermolabile (tl-) enzyme with reduced activity that may predispose to hyperhomocysteinemia. Methods and Results: To assess whether this common mutation is a risk factor venous thromboembolism, a polymerase chain reaction-based genotyping assay was used to compare the prevalence of this mutation in a group with thrombosis versus several control groups. Of the 331 thrombosis subjects, 47% were heterozygous and 11% homozygous for tl-MTHFR. In comparison, heterozygotes constituted 42-47% and homozygous 15-16% of each of three control groups (totaling 593 subjects). There was no significant difference in the tl-MTHFR homozygote frequency or allele frequency between the thrombosis and control study groups. Although the prevalence of the factor V R506Q (Leiden) mutation causing activated protein C resistance was significantly higher in the thrombosis (19%) than in the control groups (4-9%), the concomitant presence of tl-MTHFR with factor V R506Q did not contribute to any excess thrombotic risk. Conclusions: Although the tl-MTHFR mutation may predispose to hyperhomocysteinemia, a known risk factor for venous thrombosis, this common genotype is not a direct genetic risk factor for venous thrombosis, either alone or in combination with the factor V R506Q mutation.

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