title: The prothrombin gene G20210A variant: prevalence in a U.K. anticoagulant clinic population.
abstract: We have investigated the prevalence of a recently reported genetic variation in the prothrombin gene (G20210A) in patients with an objectively confirmed history of venous thrombosis, 12/219 patients (5.5%) were found to be heterozygous carriers of the 20210A allele. The incidence of the 20210A allele in a group of 164 healthy controls was 1.2% (allele frequency 0.61%, 95% CI 0.08-2.19). When patients with a known alternative hereditary risk factor for venous thrombosis (factor V Leiden mutation or deficiency of antithrombin, protein C or protein S) were excluded, the G20210A variant was found to increase the risk for venous thrombosis by approximately 5-fold (odds ratio 5.4, 95% CI 1.16-25.0). This prothrombin gene sequence variation adds further to the list of recognized genetic risk factors for thrombophilia.
authors.affiliation: University Department of Haematology, Royal Infirmary, Manchester.
authors.forename: A M
authors.initials: AM
authors.lastname: Cumming
authors.forename: S
authors.initials: S
authors.lastname: Keeney
authors.forename: A
authors.initials: A
authors.lastname: Salden
authors.forename: M
authors.initials: M
authors.lastname: Bhavnani
authors.forename: K H
authors.initials: KH
authors.lastname: Shwe
authors.forename: C R
authors.initials: CR
authors.lastname: Hay
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004739:England / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D013924:Thrombophlebitis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D011516:Prothrombin