Relation of Three Genetic Traits to Venous Thrombosis in an African-American Population

• Published in: American journal of epidemiology 1998-01, Vol.147 (1), p.30-35
• Main Authors: Dilley, Anne, Austin, Harland, Hooper, W. Craig, Lally, Cathy, Ribeiro, J. A., Wenger, Nanette Kass, Rawlins, Peggy, Evatt, Bruce
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Black or African American; Black People - genetics; blacks; Blood and lymphatic vessels; blood coagulation factors; Cardiology. Vascular system; Case-Control Studies; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; DNA Transposable Elements - genetics; Factor V - genetics; Female; Gene Deletion; genetics; Genotype; Humans; Logistic Models; Male; Medical sciences; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Mutation - genetics; Odds Ratio; Oxidoreductases Acting on CH-NH Group Donors - genetics; Peptidyl-Dipeptidase A - genetics; Polymorphism, Genetic - genetics; Prevalence; Risk Factors; Thrombophlebitis - genetics; thrombosis; veins; White People - genetics
• ISSN: 0002-9262; 1476-6256
• DOI: 10.1093/oxfordjournals.aje.a009363

A mutation in the Factor V gene (Factor V Leiden), a variant in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR), and an insertion/deletion polymorphism of the angiotensin I-converting enzyme gene (ACE) may be related to abnormal blood clotting. The authors examined the associations between these genetic traits and venous thrombosis among African Americans. This study comprised 93 patients with venous thrombosis and 185 control subjects attending clinics at an urban, public hospital in Atlanta, Georgia, in 1995–1996. Subjects' DNA was extracted from blood and assayed for these genetic traits. Odds ratios were obtained from logistic regression and used as a measure of association between each genetic trait and venous thrombosis. Factor V Leiden was unrelated to venous thrombosis, but the mutation was too rare among our Africian-American subjects to evaluate adequately its relation to venous thrombosis. The homozygous and heterozygous genotypes for the V allele of the MTHFR gene were unrelated to venous thrombosis (odds ratio=0.9, 95% confidence interval 0.5–1.8). Subjects with the deletion/deletion ACE polymorphism experienced a moderate increase in venous thrombosis risk compared with persons with the other genotypes (odds ratio=1.5, 95% confidence interval 0.9–2.6). However, women with this ACE genotype experienced no increased risk (odds ratio=0.9, 95% confidence interval 0.5–1.9), whereas men with this genotype had nearly three times the risk (odds ratio=2.8, 95% confidence interval 1.2–6.2; p value for interaction=0.06). These data indicate that the prevalence of Factor V Leiden and the V allele of the MTHFR gene is low among African Americans. The D allele of the ACE gene is equally prevalent among African Americans and whites and may be related to venous thrombosis among African-American men.