Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

Jie Zheng, Valeriia Haberland, Denis Baird, Venexia Walker, Philip Haycock, Mark R. Hurle, Alex Gutteridge, Pau Erola, Yi Liu, Shan Luo, Jamie Robinson, Tom G. Richardson, James R Staley, Benjamin Elsworth, Stephen Burgess, Benjamin B. Sun, John Danesh, Heiko Runz, Joseph Maranville, Hannah M. Martin, James Yarmolinsky, Charles Laurin, Michael V. Holmes, Jimmy Z. Liu, Karol Estrada, Rita Santos, Linda McCarthy, Dawn Waterworth, Matthew R. Nelson, George Davey Smith, Adam S. Butterworth, Gibran Hemani, Robert A. Scott, Tom R. Gaunt

Nature Genetics · 2020

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Summary

This phenome-wide Mendelian randomization study leveraged genetic variation in the plasma proteome to investigate causal relationships with complex diseases. By using protein quantitative trait loci as instrumental variables, the authors aimed to distinguish causal protein effects from confounded associations, thereby identifying therapeutic targets and mechanistic pathways linking circulating proteins to disease risk across multiple health conditions.

UK applicability

As a genetics-based mechanistic study of protein–disease associations, findings are broadly applicable to UK populations and could inform prioritisation of protein biomarkers for clinical investigation and drug development. However, the transferability depends on whether genetic variation in plasma protein levels is comparable across ancestral groups represented in the study cohorts.

Key measures

Genetic instruments for plasma proteins; disease risk associations; causal effect estimates derived from instrumental variable analysis

Outcomes reported

The study applied phenome-wide Mendelian randomization to identify causal relationships between circulating protein levels and risk of complex diseases across multiple health outcomes. This large-scale analysis assessed which plasma proteins have causal influences on disease susceptibility.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Mendelian randomization analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41588-020-0682-6
Catalogue ID
BFmor3gaas-st1uuo

Topic tags

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