Dissecting the causal genetic mechanisms of coronary heart disease

  • Miller C
  • Assimes T
  • Montgomery S
 et al. 
  • 22

    Readers

    Mendeley users who have this article in their library.
  • 5

    Citations

    Citations of this article.

Abstract

Large-scale genome-wide association studies (GWAS) have identified 46 loci that are associated with coronary heart disease (CHD). Additionally, 104 independent candidate variants (false discovery rate of 5 %) have been identified (Schunkert H, Konig IR, Kathiresan S, Reilly MP, Assimes TL, Holm H et al. Nat Genet 43:333-8, 2011; Deloukas P, Kanoni S, Willenborg C, Farrall M, Assimes TL, Thompson JR et al. Nat Genet 45:25-33, 2012; C4D Genetics Consortium. Nat Genet 43:339-44, 2011). The majority of the causal genes in these loci function independently of conventional risk factors. It is postulated that a number of the CHD-associated genes regulate basic processes in the vascular cells involved in atherosclerosis, and that study of the signaling pathways that are modulated in this cell type by causal regulatory variation will provide critical new insights for targeting the initiation and progression of disease. In this review, we will discuss the types of experimental approaches and data that are critical to understanding the molecular processes that underlie the disease risk at 9p21.3, TCF21, SORT1, and other CHD-associated loci.

Author-supplied keywords

  • Coronary heart disease
  • Genome-wide association studies
  • Regulatory variation

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Clint L. Miller

  • Themistocles L. Assimes

  • Stephen B. Montgomery

  • Thomas Quertermous

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free