title: GWAS as a Driver of Gene Discovery in Cardiometabolic Diseases.
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.
authors.affiliation: Molecular Genetics Section, Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Biljana
authors.initials: B
authors.lastname: Atanasovska
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Vinod
authors.initials: V
authors.lastname: Kumar
authors.affiliation: Molecular Genetics Section, Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Jingyuan
authors.initials: J
authors.lastname: Fu
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: c.wijmenga@umcg.nl.
authors.forename: Cisca
authors.initials: C
authors.lastname: Wijmenga
authors.affiliation: Molecular Genetics Section, Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: m.h.hofker@umcg.nl.
authors.forename: Marten H
authors.initials: MH
authors.lastname: Hofker
mesh_terms: D002318:Cardiovascular Diseases / Q000235:genetics*; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D008659:Metabolic Diseases / Q000235:genetics*
keywords: SNPs; cardiovascular disease; complex disease; expression QTL; gene prioritization