Prevalence of the prothrombin 20210 G-to-A variant in blacks: infants, patients with venous thrombosis, patients with myocardial infarction, and control subjects

J Lab Clin Med. 1998 Dec;132(6):452-5. doi: 10.1016/s0022-2143(98)90121-4.

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.

MeSH terms

  • 3' Untranslated Regions / genetics
  • Adult
  • Alleles
  • Black People / genetics*
  • Case-Control Studies
  • DNA / analysis
  • Gene Frequency
  • Georgia / epidemiology
  • Humans
  • Infant
  • Infant, Newborn
  • Myocardial Infarction / blood
  • Myocardial Infarction / epidemiology
  • Myocardial Infarction / genetics*
  • Point Mutation / genetics*
  • Prevalence
  • Prothrombin / analysis
  • Prothrombin / genetics*
  • Venous Thrombosis / blood
  • Venous Thrombosis / epidemiology
  • Venous Thrombosis / genetics*

Substances

  • 3' Untranslated Regions
  • Prothrombin
  • DNA