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 cohort⁵. We then looked at aggregate signals using gene-level collapsing analysis, which revealed 1,962 gene-protein

SUBMITTER: Dhindsa RS 

PROVIDER: S-EPMC10567546 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature