Familial occurrence of abnormalities of high-density lipoprotein cholesterol

Research output: Contribution to journalArticlepeer-review


In families, well-known monogenic high-density lipoprotein cholesterol (HDL-C) disorders characterized by extreme HDL-C levels on both ends of the continuum occur in multiple HDL pathways and can confer increased risk for atherosclerotic disease. Polygenic HDL-C variants have been more difficult to identify. In many family and twin studies in different populations, HDL-C levels have been shown to be highly heritable, explaining, on average, between 40% and 60% of between-individual variation. This review of abnormal HDL in families addresses known monogenic HDL disorders and HDL-C heritability in the general population, and presents novel data on the heritability of HDL-C in families with a history of premature coronary artery disease. We conclude that levels of HDL-C and HDL abnormalities are largely under genetic control and environmental and behavioral factors alone have only a modest impact. While rare, monogenic disorders offer considerable insight into the genetics of HDL regulation. Moderate to high heritability estimates across different family populations suggest that future genetic studies will be successful in identifying HDL genetic trait loci and that translational studies will ultimately lead to therapies that optimize the cardiovascular protective benefits of HDL.

Original languageEnglish (US)
Pages (from-to)31-40
Number of pages10
JournalJournal of clinical lipidology
Issue number1
StatePublished - Mar 1 2007


  • ATP binding cassette transporter A-I
  • Apolipoprotein A-I
  • Cholesteryl ester transfer protein
  • Coronary artery disease
  • HDL cholesterol
  • Hepatic lipase
  • LDL cholesterol
  • Lecithin cholesterol acyltransferase
  • Lipoprotein lipase
  • Scavenger receptor class B type I
  • Very-low-density lipoprotein cholesterol

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Nutrition and Dietetics
  • Cardiology and Cardiovascular Medicine

Fingerprint Dive into the research topics of 'Familial occurrence of abnormalities of high-density lipoprotein cholesterol'. Together they form a unique fingerprint.

Cite this