Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.

ABSTRACT: Genome-wide association studies (GWASs) have established the contribution of common and low-frequency variants to metabolic blood measurements in the UK Biobank (UKB). To complement existing GWAS findings, we assessed the contribution of rare protein-coding variants in relation to 355 metabolic blood measurements-including 325 predominantly lipid-related nuclear magnetic resonance (NMR)-derived blood metabolite measurements (Nightingale Health Plc) and 30 clinical blood biomarkers-using 412,393 exome sequences from four genetically diverse ancestries in the UKB. Gene-level collapsing analyses were conducted to evaluate a diverse range of rare-variant architectures for the metabolic blood measurements. Altogether, we identified significant associations (p < 1 × 10^-8) for 205 dist

SUBMITTER: Nag A 

PROVIDER: S-EPMC10027475 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature