Koprulu M, Carrasco-Zanini J, Wheeler E, et al. Proteogenomic links to human metabolic diseases. (2023) Nature Metabolism, DOI: 10.1038/s42255-023-00753-7
A team from the University of Cambridge, led by Prof. Claudia Langenberg carried out a cis-focused proteogenomics analysis of 2,923 plasma proteins measured in 1,180 individuals, identifying >1,500 independent cis genetic associations for more than 900 unique proteins. A total of 224 of these cis-pQTLs shared genetic regulation with 575 specific health outcomes, revealing several notable examples for metabolic disease.