Genetics of lipid disorders

Curr Opin Cardiol. 2010 May;25(3):238-42. doi: 10.1097/HCO.0b013e328338574d.


Purpose of review: In this review, we will highlight recent advances in identifying genes and gene regions responsible for the variation in serum lipid levels. We will also consider the next directions for research based on these advances.

Recent findings: Large-scale genome-wide association studies have successfully screened common variants across the genome for association with serum lipids and have generated novel hypotheses about the causes of serum lipid variation.

Summary: Deep sequencing of genome-wide association signals promises to expand the catalogue of variants responsible for serum lipid variation and, with a full catalogue of variants, we may develop a panel of polymorphisms with clinical utility. In parallel, functional exploration of the genome-wide association signals should expand our knowledge of lipoprotein metabolism and generate targets for pharmacologic intervention.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genome-Wide Association Study
  • Humans
  • Lipid Metabolism Disorders / genetics*
  • Lipids / blood*
  • Lipids / genetics
  • Pharmacogenetics*
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA


  • Lipids