title: Effect of the MTHFRC677T variant on risk of venous thromboembolism: interaction with factor V Leiden and prothrombin (F2G20210A) mutations.
abstract: Odds ratios for the MTHFRC677T variant were determined in a large case-control study of 558 unselected patients with venous thromboembolism and 500 control subjects. The odds ratios for MTHFRC677T heterozygosity and homozygosity were 1.07 (95%CI 0.84-1.36) and 0.71 (95%CI 0.48-1.03). In patients with the factor V Leiden or the F2G20210A mutations there was no apparent increase in risk of venous thromboembolism due to the MTHFRC677T polymorphism. Thrombophilia testing should not include genotyping for the MTHFRC677T polymorphism.
authors.affiliation: Department of Haematology, Addenbrooke's NHS Trust, Cambridge.
authors.forename: K
authors.initials: K
authors.lastname: Brown
authors.forename: R
authors.initials: R
authors.lastname: Luddington
authors.forename: T
authors.initials: T
authors.lastname: Baglin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005165:Factor V / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D013923:Thromboembolism / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)