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Tier 3 — Observational / field trialPeer-reviewed

Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Lasse Folkersen, Stefan Gustafsson, Qin Wang, Daniel Hvidberg Hansen, Åsa K. Hedman, Andrew J. Schork, Karen Page, Daria V. Zhernakova, Yang Wu, James E. Peters, Niclas Eriksson, Sarah E. Bergen, Thibaud Boutin, Andrew D. Bretherick, Stefan Enroth, Anette Kalnapenkis, Jesper R. Gådin, Bianca E Suur, Yan Chen, Ljubica Matic, Jeremy D. Gale, Julie Lee, Weidong Zhang, Amira Quazi, Mika Ala‐Korpela, Seung Hoan Choi, Annique Claringbould, John Danesh, George Davey Smith, Federico De Masi, Sölve Elmståhl, Gunnar Engström, Eric B. Fauman, Céline Fernandez, Lude Franke, Paul W. Franks, Vilmantas Giedraitis, Chris Haley, Anders Hamsten, Andrés Ingason, Åsa Johansson, Peter K. Joshi, Lars Lind, Cecilia M. Lindgren, Steven A. Lubitz, Tom Palmer, Erin Macdonald-Dunlop, Martin Magnusson, Olle Melander, Karl Michaëlsson, Andrew P. Morris, Reedik Mägi, Michael W. Nagle, Peter M. Nilsson, Jan Nilsson, Marju Orho‐Melander, Ozren Polašek, Bram P. Prins, Erik Pålsson, Ting Qi, Marketa Sjögren, Johan Sundström, Praveen Surendran, Urmo Võsa, Thomas Werge, Rasmus Wernersson, Harm-Jan Westra, Jian Yang, Alexandra Zhernakova, Johan Ärnlöv, Jingyuan Fu, J. G. Smith, Tõnu Esko, Caroline Hayward, Ulf Gyllensten, Mikael Landén, Agneta Siegbahn, James F. Wilson, Lars Wallentin, Adam S. Butterworth, Michael V. Holmes, Erik Ingelsson, Anders Mälarstig

Nature Metabolism · 2020

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Summary

This large-scale genetic study mapped protein quantitative trait loci for 90 cardiovascular proteins across over 30,000 individuals, identifying 451 pQTLs and their regulatory pathways. The findings were substantiated through mouse knockdown experiments and clinical trial data, and Mendelian randomization analysis identified 11 proteins with causal links to human disease that represent novel or repositioned drug target opportunities. The work provides a genetic resource for understanding circulating protein regulation relevant to cardiovascular health and precision medicine.

UK applicability

The findings have direct relevance to UK cardiovascular research and drug development pipelines, particularly for understanding genetic variants affecting circulating protein levels in European-ancestry populations well-represented in this international cohort. The identified drug targets may inform future precision medicine approaches to cardiovascular disease prevention and treatment in the UK NHS.

Key measures

Protein quantitative trait loci (pQTL); trans-pQTL gene and regulatory designations; Mendelian randomization for causal inference; mouse knockdown validation; clinical trial evidence

Outcomes reported

The study mapped protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals and identified 451 pQTLs across 85 proteins. Eleven proteins with causal evidence of disease involvement were identified as novel or repositioned drug targets.

Theme
Nutrition & health
Subject
Dietary patterns & chronic disease
Study type
Research
Study design
Observational cohort with genetic mapping and Mendelian randomization
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s42255-020-00287-2
Catalogue ID
BFmor3gaas-moehoq

Topic tags

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