An overview of genetic factors influencing plasma lipid levels and coronary artery disease risk

Arch Pathol Lab Med. 1999 Dec;123(12):1219-22. doi: 10.5858/1999-123-1219-AOOGFI.


Background: Coronary artery disease (CAD) is a major cause of morbidity and mortality in most Western countries and its origin involves a significant genetic component.

Methods: Genetic and epidemiologic studies have been performed to identify factors that influence the CAD risk in the population.

Results: The primary loci that have been demonstrated to be associated with increased CAD risk owing to genetic mutations include the low-density lipoprotein receptor, apolipoprotein B-100, and lipoprotein(a). Additional implicated loci include lipoprotein lipase, apolipoprotein CII, cholesteryl ester transfer protein, apolipoprotein AI, and lecithin-cholesterol acyl transferase.

Conclusions: Numerous mutations in known genes exert a major effect on CAD risk in some patients. However, in most patients with CAD, the genetic component is believed to be attributable to the aggregate effect of loci that, individually, exert only a minor influence on lipoprotein levels.

Publication types

  • Review

MeSH terms

  • Apolipoprotein B-100
  • Apolipoprotein C-II
  • Apolipoproteins B / blood
  • Apolipoproteins C / blood
  • Apolipoproteins E / blood
  • Carrier Proteins / blood
  • Cholesterol Ester Transfer Proteins
  • Coronary Disease / blood*
  • Coronary Disease / genetics*
  • Glycoproteins*
  • Humans
  • Lipids / blood*
  • Lipoprotein Lipase / blood
  • Lipoprotein(a) / blood
  • Lipoproteins, HDL / blood
  • Receptors, LDL / blood


  • Apolipoprotein B-100
  • Apolipoprotein C-II
  • Apolipoproteins B
  • Apolipoproteins C
  • Apolipoproteins E
  • CETP protein, human
  • Carrier Proteins
  • Cholesterol Ester Transfer Proteins
  • Glycoproteins
  • Lipids
  • Lipoprotein(a)
  • Lipoproteins, HDL
  • Receptors, LDL
  • Lipoprotein Lipase