Frequency of the thermal labile mutation of methylenetetrahydrofolate reductase in patients with venous thrombosis

L. E. Grosso, D. Buscetti, C. S. Eby

Research output: Contribution to journalArticlepeer-review

Abstract

Hyperhomocysteinemia is a risk factor for development of early, severe atherosclerosis. While controversial, hyperhomocysteinemia has also been linked to an increased incidence of venons thrombosis. Recently a common mutation of methylenetetrahydrofolate reductase (conferring athermolabile phenotype) has been identified as a, cause of hyperhomocysteinemia. We have used a retrospective case-control study to evaluate the relative risk this motetion of methylenetetrahydrofolate reductase gene contribues to venous was compared to a group of patients that have not had thrombotic events (evaluated for either primary neoplastic or infections diseases). The alleles of methylenetetrahydrofolate reductase were characterized by PCR (to amplify a genomic fragment surrounding the mutation) followed by digestion with Hinf1. Agarose gel electrophoresis of the digestion fragments identified both wild-type and mutant alleles. The freqoency of homogpgous mutants was 10.6% and 2.8% in the group with thrombosis (n=123) end the control group (n=36) respectively. These data suggest that the thermolabile nutation of methylenetetrahydrofolate reductase is a risk factor for the development of venous thrombosis.

Original languageEnglish
Pages (from-to)A313
JournalFASEB Journal
Volume11
Issue number3
StatePublished - Dec 1 1997

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