Using Gene Expression to Annotate Cardiovascular GWAS Loci

Frontiers in Cardiovascular Medicine
Matthias Heinig

Abstract

Genetic variants at hundreds of loci associated with cardiovascular phenotypes have been identified by genome wide association studies. Most of these variants are located in intronic or intergenic regions rendering the functional and mechanistic follow up difficult. These non-protein-coding regions harbor regulatory sequences. Thus the study of genetic variants associated with transcription-so called expression quantitative trait loci-has emerged as a promising approach to identify regulatory sequence variants. The genes and pathways they control constitute candidate causal drivers at cardiovascular risk loci. This review provides an overview of the expression quantitative trait loci resources available for cardiovascular genetics research and the most commonly used approaches for candidate gene identification.

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Citations

Jan 16, 2019·Pediatric Research·David K StevensonJonathan M Davis
Jul 1, 2020·Open Biology·Diego VillarAndrew Tinker
Jun 17, 2020·Frontiers in Physiology·Koen T ScholmanBastiaan J Boukens
Dec 2, 2020·RNA Biology·Tatiana DomitrovicFernando L Palhano
Jul 17, 2020·Computational and Structural Biotechnology Journal·Alexandria Lau, Hon-Cheong So

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Methods Mentioned

BETA
biopsies
Hi-C

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