title: Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation.
abstract: A high prevalence of a common mutation in the Hfe gene (C282Y) has recently been reported in patients with the factor V Leiden mutation and a history of thrombosis. The aim of this study was to estimate the relative risk of venous thromboembolism in a large case-control study. 56/481 patients (11.6%) and 57/497 controls (11.5%) were heterozygous for the C282Y allele giving an odds ratio of 1.02 (95%CI 0.69-1.51). 12/81 patients with the factor V Leiden mutation were heterozygous for the C282Y allele compared to 1/13 controls, odds ratio 2.09 (95%CI 0.25-17.6). An analysis of a further group of patients and controls selected for the factor V Leiden mutation did not indicate a higher prevalence of the C282Y allele in symptomatic patients, odds ratio 0.17 (95%CI 0.34-0.81). This study does not support the hypothesis that the C282Y allele is an additional risk factor for venous thrombosis in patients with the factor V Leiden mutation.
authors.affiliation: Department of Haematology, Addenbrooke's NHS Trust, Cambridge, UK.
authors.forename: K
authors.initials: K
authors.lastname: Brown
authors.forename: R
authors.initials: R
authors.lastname: Luddington
authors.forename: S A
authors.initials: SA
authors.lastname: Taylor
authors.forename: D P
authors.initials: DP
authors.lastname: Lillicrap
authors.forename: T P
authors.initials: TP
authors.lastname: Baglin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D013923:Thromboembolism / Q000235:genetics*; D020246:Venous Thrombosis / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V