title: Contribution of the glycoprotein Ia 807TT, methylene tetrahydrofolate reductase 677TT and prothrombin 20210GA genotypes to prothrombotic risk among factor V 1691GA (Leiden) carriers.
abstract: The cooperative effects of the GPIa 807TT, MTHFR 677TT and prothrombin 20210GA genotypes with the FV Leiden 1691GA (FVL) genotype were evaluated by comparing these genotype frequencies in 77 asymptomatic and 156 symptomatic heterozygous FVL carriers. The GPIa 807TT and MTHFR 677TT genotypes did not segregate within the symptomatic FVL carrier group and did not contribute to venous thrombotic risk in this patient cohort. There was no difference in the prothrombin 20210GA genotype frequency between asymptomatic FVL carriers and a random Caucasian control group; however, the prothrombin 20210GA genotype was nearly 5 times as prevalent (19/156 v 2/77; P < 0.02) in the symptomatic FVL carriers (odds ratio 5.21; 95% confidence interval 1.20-47.62), demonstrating that this important prothrombotic risk factor acts synergistically with FVL.
authors.affiliation: The Diagnostic Laboratories of The Blood Center of Southeastern Wisconsin, Milwaukee, Wisconsin 53201-2178, USA. mjhessner@bcsew.edu
authors.forename: M J
authors.initials: MJ
authors.lastname: Hessner
authors.forename: D M
authors.initials: DM
authors.lastname: Dinauer
authors.forename: R A
authors.initials: RA
authors.lastname: Luhm
authors.forename: J L
authors.initials: JL
authors.lastname: Endres
authors.forename: R R
authors.initials: RR
authors.lastname: Montgomery
authors.forename: K D
authors.initials: KD
authors.lastname: Friedman
mesh_terms: D005165:Factor V / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D016023:Integrins / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D038981:Receptors, Collagen; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics*
chemical_list: D016023:Integrins; D038981:Receptors, Collagen; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)