Progress in genetic association studies of plasma lipids

Folkert W Asselbergs, Ruth C Lovering, Fotios Drenos

Research output: Contribution to journalArticle (Academic Journal)peer-review

11 Citations (Scopus)


PURPOSE OF REVIEW: This review summarizes recently published large-scale efforts elucidating the genetic architecture of lipid levels. A supplemental file with all genetic loci is provided for research purposes and we performed bioinformatic analyses of the genetic variants to give an oversight of involved pathways.

RECENT FINDINGS: In total, 52 genes for HDL cholesterol, 42 genes for LDL cholesterol, 59 genes for total cholesterol, and 39 genes for triglycerides have been identified. Genetic overlap is present between the different traits and similar pathways are involved. Most of the SNPs that were detected in the European studies could be replicated in other ethnicities and these SNPs show the same direction of effect suggesting that the underlying genetic architecture of blood lipids is similar between ethnicities.

SUMMARY: Genetic studies have identified many loci associated with plasma lipids and have provided insight into the underlying mechanisms of lipid homeostasis. Future research is needed to determine whether these loci may be novel targets for lipid-lowering therapy and for reducing cardiovascular disease risk. In addition, the proportion of genetic variance explained by these lipid loci is still limited and new large-scale genetic studies are ongoing to identify additional common and rare variants associated with lipid levels.

Original languageEnglish
Pages (from-to)123-8
Number of pages6
JournalCurrent Opinion in Lipidology
Issue number2
Publication statusPublished - Apr 2013


  • Animals
  • Cardiovascular Diseases
  • Cholesterol, HDL
  • Cholesterol, LDL
  • Computational Biology
  • European Continental Ancestry Group
  • Genetic Association Studies
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Triglycerides
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review


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