Rare variant associations with plasma protein levels in the UK Biobank

Abstract Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets 1–4 . Because previous proteogenomic studies have focused on common variation via genome-wide association studies, the contribution of rare variants to the plasma proteome remains largely unknown. Here we identify associations between rare protein-coding variants and 2,923 plasma protein abundances measured in 49,736 UK Biobank individuals. Our variant-level exome-wide association study identified 5,433 rare genotype–protein associations, of which 81% were undetected in a previous genome-wide association study of the same cohort 5 . We then looked at aggregate signals…

• A
  Amgen
• BS
  Bristol-Myers Squibb
• P
  Pfizer
• A
  AstraZeneca
• B
  Biogen
• AP
  Alnylam Pharmaceuticals
• RP
  Regeneron Pharmaceuticals
• NN
  Novo Nordisk
• G
  Genentech
• JP
  Janssen Pharmaceuticals