GWAS as a Driver of Gene Discovery in Cardiometabolic Diseases

Biljana Atanasovska, Vinod Kumar, Jingyuan Fu, Cisca Wijmenga*, Marten H. Hofker

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

18 Citations (Scopus)

Abstract

Cardiometabolic diseases represent a common complex disorder with a strong genetic component. Currently, genome-wide association studies (GWAS) have yielded some 755 single-nucleotide polymorphisms (SNPs) encompassing 366 independent loci that may help to decipher the molecular basis of cardiometabolic diseases. Going from a disease SNP to the underlying disease mechanisms is a huge challenge because the associated SNPs rarely disrupt protein function. Many disease SNPs are located in noncoding regions, and therefore attention is now focused on linking genetic SNP variation to effects on gene expression levels. By integrating genetic information with large-scale gene expression data, and with data from epigenetic roadmaps revealing gene regulatory regions, we expect to be able to identify candidate disease genes and the regulatory potential of disease SNPs.

Original languageEnglish
Pages (from-to)722-732
Number of pages11
JournalTrends in endocrinology and metabolism
Volume26
Issue number12
DOIs
Publication statusPublished - Dec-2015

Keywords

  • GENOME-WIDE ASSOCIATION
  • CORONARY-ARTERY-DISEASE
  • DIABETES RISK
  • VARIANTS
  • IDENTIFICATION
  • COMMON
  • BLOOD
  • LOCI
  • MUTATIONS
  • OBESITY

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