Proteogenomic origins of disease in British South Asians

Abstract Proteogenomic studies have transformed the way we derive novel insights into human biology and pathophysiology but are currently limited by their proteomic coverage and ancestral representation. Here, we integrate rare and common genetic variation with measurements of >11,000 plasma proteins on two affinity-based platforms (>6,000 targets not previously covered) in 1,535 individuals of British Bangladeshi and Pakistani ancestry of the Genes & Health cohort. We report 3,826 high-confidence common (minor allele frequency (MAF)>1.0%) protein quantitative trait loci (pQTLs), over half of which are novel and including >200 pQTLs with greater MAF in South Asians. Systematic analyses of rare (MAF