Most GWAS of plasma proteomics have focused on White individuals of European ancestry, limiting biological insight from other ancestry-enriched protein quantitative loci (pQTL).
Using diverse multiomics datasets and analyses
This work utilized data from two different cohorts (Jackson Heart Study and Multi-Ethnic Study of Atherosclerosis) and two different biobanks (All of Us and BioMe) to assemble an analytic dataset including large numbers of individuals with African ancestry. Using assembled cohort data, we identified cis-pQTLs (some among variants enriched in those with African ancestry) and then, using assembled biobank data, we performed a PheWAS and discovered important associations between identified cis-pQTLs and clinical diagnoses and laboratory measurements. The summary statistics from our GWAS and PheWAS analyses have been made available to the broader scientific community at https://bidmc-cardiology-2024.shinyapps.io/pqtl_phewas_explorer/
See the full paper: https://www.jci.org/articles/view/181802