Connecting genetic risk to disease end points through the human blood plasma proteome

Genome-wide association studies (GWAS) with intermediate phenotypes, like changes in metabolite and protein levels, provide functional evidence to map disease associations and translate them into clinical applications. However, although hundreds of genetic variants have been associated with complex disorders, the underlying molecular pathways often remain elusive. Associations with intermediate traits are key in establishing functional links between GWAS-identified risk-variants and disease end points. Here we describe a GWAS using a highly multiplexed aptamer-based affinity proteomics platform. We quantify 539 associations between protein levels and gene variants (pQTLs) in a German cohort and replicate over…

• QF
  Qatar Foundation
• Z
  ZonMw

  Awards: VENI Grant 916.14.023, 916.14.023
• BF
  Bundesministerium für Bildung und Forschung
• WC
  Weill Cornell Medical College
• WC
  Weill Cornell Medicine - Qatar