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Biochim Biophys Acta. 2014 Oct;1842(10):2010-2020. doi: 10.1016/j.bbadis.2014.06.007. Epub 2014 Jun 12.

Genetics of lipid traits: Genome-wide approaches yield new biology and clues to causality in coronary artery disease.

Biochimica et biophysica acta

Sumeet A Khetarpal, Daniel J Rader

Affiliations

  1. Perelman School of Medicine, University of Pennsylvania, USA.
  2. Perelman School of Medicine, University of Pennsylvania, USA. Electronic address: [email protected].

PMID: 24931102 DOI: 10.1016/j.bbadis.2014.06.007

Abstract

A wealth of novel lipid loci have been identified through a variety of approaches focused on common and low-frequency variation and collaborative metaanalyses in multiethnic populations. Despite progress in identification of loci, the task of determining causal variants remains challenging. This work will undoubtedly be enhanced by improved understanding of regulatory DNA at a genomewide level as well as new methodologies for interrogating the relationships between noncoding SNPs and regulatory regions. Equally challenging is the identification of causal genes at novel loci. Some progress has been made for a handful of genes and comprehensive testing of candidate genes using multiple model systems is underway. Additional insights will be gleaned from focusing on low frequency and rare coding variation at candidate loci in large populations. This article is part of a Special Issue entitled: From Genome to Function.

Copyright © 2014 Elsevier B.V. All rights reserved.

Keywords: Complex traits; Genetics; Genome-wide association; Lipoproteins

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