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Review
. 2013 Apr;24(2):123-8.
doi: 10.1097/MOL.0b013e32835df2d6.

Progress in genetic association studies of plasma lipids

Folkert W Asselbergs  1 , Ruth C Lovering, Fotios Drenos
Affiliations
Free PMC article
Review

Progress in genetic association studies of plasma lipids

Folkert W Asselbergs et al. Curr Opin Lipidol. 2013 Apr.
Free PMC article

Abstract

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.

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Figures

Box 1
Box 1
no caption available
FIGURE 1
FIGURE 1
Diagrammatic representation of the enrichment of Gene Ontology terms within the genes associated with lipid trait SNPs. A selection of the enriched Gene Ontology terms are listed on the outer arc (full list of enriched Gene Ontology terms in Supplemental Table S7). The inner arc provides biological process grouping terms for the Gene Ontology terms on the outer arc. The arcs represent the percentage of genes in all four lipid trait datasets, which are annotated to these Gene Ontology terms.
FIGURE 2
FIGURE 2
Venn diagram showing the overlap between the genes associated with the four lipids traits from large-scale studies up to now.
See this image and copyright information in PMC

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