ABO blood group but not haemostasis genetic polymorphisms significantly influence thrombotic risk: a study of 180 homozygotes for the Factor V Leiden mutation

• Published in: British journal of haematology Vol. 135; no. 5; pp. 697 - 702
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.12.2006; Blackwell
• Subjects: ABO blood group; ABO Blood-Group System; Adult; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Case-Control Studies; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Factor V - genetics; Factor V Leiden homozygotes; Factor XIII - genetics; Female; Genetic Predisposition to Disease; Hematologic and hematopoietic diseases; Hemostasis - genetics; Homozygote; Humans; Logistic Models; Male; Medical sciences; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; methylene‐tetrahydrofolate reductase; Middle Aged; Odds Ratio; Phenotype; Plasminogen Activator Inhibitor 1 - genetics; Polymorphism, Genetic; Promoter Regions, Genetic; Protein C - genetics; Prothrombin - genetics; Retrospective Studies; Risk; venous thromboembolism; Venous Thrombosis - blood; Venous Thrombosis - genetics; Methylenetetrahydrofolate reductase (NADPH); Factor V Leiden; Genetic variability; Hematology; Enzyme; ABO(H)-System; Deep vein thrombosis; Cardiovascular disease; Genotype; Epidemiology; ABO blood group; Venous disease; Vascular disease; Thrombophilia; Blood group; venous thromboembolism; Risk factor; Genetics; methylene-tetrahydrofolate reductase; Venous thrombosis; Oxidoreductases; Mutation; Thromboembolism; Factor V Leiden homozygotes
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/j.1365-2141.2006.06353.x

Summary Limited data exist on the impact of additional genetic risk factors on the clinical manifestations of factor (F) V Leiden homozygotes. A retrospective multi‐centre cohort study was performed to assess the role of the FII G20210A gene mutation, the protein C (PC) promoter CG haplotype, the combination of two PC polymorphisms (A‐1641G, C‐1654T), the FXIII Val34Leu polymorphism, two thrombin‐activatable fibrinolysis inhibitor polymorphisms (Thr325Ile, Ala147Thr), two plasminogen activator inhibitor‐1 polymorphisms (‐675 4G/5G, A‐844G), the methylene‐tetrahydrofolate reductase (MTHFR) C677T polymorphism and the ABO blood group on the thrombotic phenotype in FV Leiden homozygotes. 127 subjects with venous thrombosis and 53 asymptomatic subjects were analysed. The T allele of MTHFR C677T was more frequent in symptomatic subjects than in asymptomatic ones (68% vs. 45%, P = 0·02; odds ratio (OR) 2·8, 95% CI 1·3–5·8, after adjustment for potential confounders). For the other polymorphisms, no difference was observed between symptomatic and asymptomatic subjects. The non‐O blood group was more frequent among symptomatic carriers (84% vs. 57%, P = 0·0002; OR 4·1, 95% CI 1·7–9·7). In conclusion, except for the ABO blood group, none of the polymorphisms studied contribute strongly to the thrombotic risk in FV Leiden homozygotes.