Progress in genetic association studies of plasma lipids

Asselbergs, Folkert W.a,b,c; Lovering, Ruth C.d; Drenos, Fotiosd

Current Opinion in Lipidology: April 2013 - Volume 24 - Issue 2 - p 123–128
doi: 10.1097/MOL.0b013e32835df2d6

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.

aDivision of Heart and Lungs, Department of Cardiology

bJulius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht

cDurrer Center for Cardiogenetic Research, Amsterdam, The Netherlands

dCentre for Cardiovascular Genetics, BHF Laboratories, Institute of Cardiovascular Sciences, University College London, London, UK

Correspondence to Fotios Drenos, Centre for Cardiovascular Genetics, BHF Laboratories, Institute of Cardiovascular Sciences University College London, Rayne Building, 5 University St, London WC1E 6JF, UK. Tel: +44 2 07 679 6964; e-mail:

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