From Genotype to Phenotype: A Primer on the Functional Follow-up of Genome-Wide Association Studies in Cardiovascular Disease

Jennie Lin, Kiran Musunuru

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Genome-wide association studies (GWASs) have implicated many human genomic loci in the development of complex traits. The loci identified by these studies are potentially involved in novel pathways that contribute to disease pathophysiology. However, eventual therapeutic targeting of these pathways relies on bridging the gap between genetic association and function, a task that first requires validation of causal genetic variants, casual genes, and directionality of effect. Executing this task requires basic knowledge of interpreting GWAS results and prioritizing candidates for further study, in addition to understanding the experimental methods available for evaluating candidate variants. Here we review the basic genetic principles of genome-wide association studies, the computational and experimental tools used for identifying causal variants and genes, and salient illustrative examples of how cardiovascular loci have undergone functional investigation.

Original languageEnglish (US)
JournalCirculation. Genomic and precision medicine
Volume11
Issue number2
StatePublished - Feb 1 2018

Keywords

  • association studies
  • gene regulation
  • genetic techniques
  • genetic variation
  • genetics
  • genomics

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