DNA polymorphisms in adhesion molecule genes--a new risk factor for early atherosclerosis

Hum Genet. 1996 Jan;97(1):15-20. doi: 10.1007/BF00218826.


To contribute to the analysis of the genetic background of atherosclerosis, especially endothelial dysfunction, we searched for DNA polymorphisms in the genes encoding E-, P-, and L-selectin, and ICAM-I and VCAM-I. We detected 17 mutations by single-strand conformation polymorphisms analysis and direct sequencing. Five of them resulted in an amino acid substitution. In E-selectin, exchanges from serine to arginine (position 128), from leucine to phenylalanine (position 554), and a DNA mutation from guanine to thymine (position 98) present significantly different allele frequencies in young patients with angiographically established, severe atherosclerosis, compared with an unselected population. Results suggest that these polymorphisms are associated with a higher risk for early severe atherosclerosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Arteriosclerosis / epidemiology
  • Arteriosclerosis / genetics*
  • Base Sequence
  • DNA / genetics
  • DNA Primers
  • E-Selectin / genetics
  • Female
  • Gene Frequency
  • Genetic Carrier Screening
  • Humans
  • Intercellular Adhesion Molecule-1 / genetics*
  • L-Selectin / genetics
  • Male
  • Middle Aged
  • P-Selectin / genetics
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational*
  • Risk Factors
  • Selectins / genetics*
  • Vascular Cell Adhesion Molecule-1 / genetics*


  • DNA Primers
  • E-Selectin
  • P-Selectin
  • Selectins
  • Vascular Cell Adhesion Molecule-1
  • Intercellular Adhesion Molecule-1
  • L-Selectin
  • DNA