Plasma proteomic associations with genetics and health in the UK Biobank

Benjamin B. Sun, Joshua Chiou, Matthew Traylor, Christian Benner, Yi‐Hsiang Hsu, Tom G. Richardson, Praveen Surendran, Anubha Mahajan, Chloe Robins, Steven G. Grinnell, Liping Hou, Erika Kvikstad, Oliver S. Burren, Jonathan Davitte, Kyle Ferber, Christopher E. Gillies, Åsa K. Hedman, Sile Hu, Tin-Chi Lin, Rajesh Mikkilineni, Rion Pendergrass, Corran Pickering, Bram P. Prins, Denis Baird, Chia‐Yen Chen, Lucas D. Ward, Aimée M. Deaton, Samantha Welsh, Carissa M. Willis, Nick Lehner, Matthias Arnold, Maria A. Wörheide, Karsten Suhre, Gabi Kastenmüller, Anurag Sethi, Madeleine Cule, Anil Raj, Alnylam Human Genetics, AstraZeneca Genomics Initiative, Biogen Biobank Team, Bristol Myers Squibb, Genentech Human Genetics, GlaxoSmithKline Genomic Sciences, Pfizer Integrative Biology, Population Analytics of Janssen Data Sciences, Hyun Ming Kang, Lucy Burkitt-Gray, Eugene Melamud, Mary Helen Black, Eric B. Fauman, Joanna M. M. Howson, Hyun Min Kang, Mark I. McCarthy, Paul Nioi, Slavé Petrovski, Robert A. Scott, Erin N. Smith, Sándor Szalma, Dawn Waterworth, Lyndon J. Mitnaul, Joseph D. Szustakowski, Bradford W. Gibson, Melissa Miller, Christopher D. Whelan

Nature · 2023

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Summary

The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we provide a detailed summary of this initiative, including technical and biological validations, insights into proteomic disease signatures, and prediction modelling for various demographic and health indicators. We present comprehensive protein quantitative trait locus (pQTL) mapping of 2,923 proteins that identifies 14,287 primary genetic associations, of which 81% are previously undescribed, alongside ancestry-specific pQTL mapping in non-European individuals. The study provides an updated characterization of the genetic architecture of the plasma proteome, contextualized with projected pQTL discovery rates as sample sizes a

Source type: Peer-reviewed study
DOI: 10.1038/s41586-023-06592-6
Catalogue ID: SNmohdw6s2-bwlbld

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