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Review
. 2016;4(3):130-141.
doi: 10.1007/s40142-016-0097-y. Epub 2016 Jun 7.

Genetics of Lipid and Lipoprotein Disorders and Traits

Jacqueline S Dron  1 , Robert A Hegele  1
Affiliations
Review

Genetics of Lipid and Lipoprotein Disorders and Traits

Jacqueline S Dron et al. Curr Genet Med Rep. 2016.

Abstract

Purpose of review: Plasma lipids, namely cholesterol and triglyceride, and lipoproteins, such as low-density lipoprotein (LDL) and high-density lipoprotein, serve numerous physiological roles. Perturbed levels of these traits underlie monogenic dyslipidemias, a diverse group of multisystem disorders. We are on the verge of having a relatively complete picture of the human dyslipidemias and their components.

Recent findings: Recent advances in genetics of plasma lipids and lipoproteins include the following: (1) expanding the range of genes causing monogenic dyslipidemias, particularly elevated LDL cholesterol; (2) appreciating the role of polygenic effects in such traits as familial hypercholesterolemia and combined hyperlipidemia; (3) accumulating a list of common variants that determine plasma lipids and lipoproteins; (4) applying exome sequencing to identify collections of rare variants determining plasma lipids and lipoproteins that via Mendelian randomization have also implicated gene products such as NPC1L1, APOC3, LDLR, APOA5, and ANGPTL4 as causal for atherosclerotic cardiovascular disease; and (5) using naturally occurring genetic variation to identify new drug targets, including inhibitors of apolipoprotein (apo) C-III, apo(a), ANGPTL3, and ANGPTL4.

Summary: Here, we compile this disparate range of data linking human genetic variation to plasma lipids and lipoproteins, providing a "one stop shop" for the interested reader.

Keywords: Atherosclerosis; DNA variants; Dyslipidemia; Monogenic; Polygenic.

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Conflict of interest statement

Disclosure

Jacqueline S. Dron declares that she has no conflict of interest. Robert A. Hegele is a consultant and speaker’s bureau member for Aegerion, Amgen, Sanofi, Pfizer, and Valeant.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Figures

Fig. 1
Fig. 1
Summary of current information for genes associated with: a LDL cholesterol (LDL-C), b HDL cholesterol (HDL-C), c Triglyceride (TG)
See this image and copyright information in PMC

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