title: Prevalence of the prothrombin 20210 G-to-A variant in blacks: infants, patients with venous thrombosis, patients with myocardial infarction, and control subjects.
abstract: A genetic variation in the prothrombin gene is located in the 3-untranslated region at position 20210 where a G-->A transition occurs. The prevalence of the mutation is 1% to 2% in white populations, and the mutation is associated with an increased risk of venous thrombosis and myocardial infarction. We report the prevalence of the A allele in blacks at birth; in black control subjects with no history of heart attack, stroke, or blood clots; in black patients with venous thrombosis; and in black patients with myocardial infarction. Among 318 infants, the prevalence of the A allele was 0.2% (1 heterozygote), with an exact, one-sided upper 95% confidence limit of 0.7%. Among 185 control subjects the variant was absent, yielding an exact, one-sided upper 95% confidence limit of 0.8% for the A allele. The heterozygous genotype was found in 2 of 91 subjects with deep vein thrombosis and in none of 123 subjects with myocardial infarction. The very low prevalence of the A allele indicates that the prothrombin variant is not a major cause of venous thrombosis or myocardial infarction in blacks.
authors.affiliation: Division of AIDS, STD, and Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, US Department of Health and Human Services, Atlanta, GA 30333, USA.
authors.forename: A
authors.initials: A
authors.lastname: Dilley
authors.forename: H
authors.initials: H
authors.lastname: Austin
authors.forename: W C
authors.initials: WC
authors.lastname: Hooper
authors.forename: M
authors.initials: M
authors.lastname: El-Jamil
authors.forename: C
authors.initials: C
authors.lastname: Whitsett
authors.forename: N K
authors.initials: NK
authors.lastname: Wenger
authors.forename: J
authors.initials: J
authors.lastname: Benson
authors.forename: B
authors.initials: B
authors.lastname: Evatt
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000328:Adult; D000483:Alleles; D044383:Black People / Q000235:genetics*; D016022:Case-Control Studies; D004247:DNA / Q000032:analysis; D005787:Gene Frequency; D005845:Georgia / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009203:Myocardial Infarction / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D015995:Prevalence; D011516:Prothrombin / Q000032:analysis / Q000235:genetics*; D020246:Venous Thrombosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D001741:Black or African American
chemical_list: D020413:3' Untranslated Regions; D011516:Prothrombin; D004247:DNA