Frequencies of five genetic polymorphisms in coronarographed patients and effects on lipid levels in a supposedly healthy population

Clin Genet. 1996 Nov;50(5):339-47. doi: 10.1111/j.1399-0004.1996.tb02385.x.

Abstract

Allele frequencies of genetic polymorphisms were compared between supposedly healthy subjects and angiographically proven coronary artery disease patients. The polymorphic candidate loci investigated were the apolipoprotein (apo) B signal peptide and XbaI polymorphism, the apo E polymorphism and two polymorphism of lipoprotein lipase (LPL) gene: Hind/III and PvuII. Apo B signal peptide and HindIII/LPL polymorphisms showed significant differences in allele partition between cases and controls; the rare alleles of both polymorphisms were less frequent (p < 0.05) in cases. We looked for associations between the polymorphisms and lipid concentration variability in a supposedly healthy population (145 men and 144 women). Apo B signal peptide, apo E and PvuII/LPL polymorphisms seem to influence some lipid metabolism parameters significantly. Apo AI and LpCIII levels were significantly different among apo B signal peptide genotypes: Del homozygotes had the highest concentrations of both variables. The epsilon 4 allele of apo E polymorphism was associated with increased concentrations of total cholesterol, LDL cholesterol and apo B. Increased LpAI:AII levels observed in E3 homozygotes (p < 0.01) have not previously been reported. LpAI:AII concentration was also influenced by PvuII/LPL polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles*
  • Apolipoproteins B / genetics*
  • Apolipoproteins E / genetics*
  • Coronary Angiography
  • Coronary Disease / diagnostic imaging
  • Coronary Disease / genetics*
  • Coronary Disease / metabolism
  • Female
  • Gene Frequency
  • Humans
  • Lipoprotein Lipase / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Population
  • Protein Sorting Signals / genetics*

Substances

  • Apolipoproteins B
  • Apolipoproteins E
  • Protein Sorting Signals
  • Lipoprotein Lipase