Population-scale proteogenomic studies linking gene variants that regulate protein expression (“pQTLs”) to clinical phenotypes are rapidly enhancing our understanding of disease biology and accelerating drug development but have been limited by a focus on individuals of White European ancestry. Today’s #weeklyread describes an important study from researchers at Harvard Medical School, who used the Olink® Explore platform to measure ~3,000 proteins in 1,054 Black American adults to gain new biological insights that expand on previous studies by addressing broader genetic diversity.
Key highlights
• 1002 pQTLs were Identified for 925 proteins, 86% of which could be replicated in a validation cohort.
• There was significant overlap with data from the mostly White European ancestry UK Biobank Pharma Proteomics Project, but 43% of the proteins measured had pQTL sets that were distinct from those reported in UKB.
• 55 proteins showed statistically significant signals of association with gene variants enriched in African ancestry, many linked to diseases that lack precise biomarkers
These findings have been made available as an online resource for the wider scientific community. The authors concluded, “Our GWAS findings underscore the importance of genetic diversity, especially for variants nearly absent in the European population, to uncover, clinically relevant findings”.
Read the article: https://hubs.la/Q02W6dB-0
#olink #proteomics #precisionmedicine
