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American Journal of Epidemiology Vol. 147, No. 1: 30-35
Copyright © 1998 by The Johns Hopkins University School of Hygiene and Public Health


research-article

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

Anne Dilley1,, Harland Austin1,2, W. Craig Hooper1, Cathy Lally1,2, J. A. Ribeiro3, Nanette Kass Wenger3,4, Peggy Rawlins4 and Bruce Evatt1

1National Center for Infectious Diseases, Centers for Disease Control and Prevention, Public Health Service, US Department of Health and Human Services Atlanta, GA
2The Rollins School of Public Health, Emoty University Atlanta, GA
3Emory University School of Medicine Atlanta, GA
4Grady Memorial Hospital Atlanta, GA

Reprint requests to Dr. Anne Dilley, Centers for Disease Control and Prevention, 1600 Clifton Road, MS-E64, Atlanta, GA 30333

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.

blacks; blood coagulation factors; genetics; prevalence; risk factors; thrombosis; veins


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