Proteomic health archetypes identified in disease-free adults enable risk assessment for diverse chronic diseases

BACKGROUND: The prevention of common chronic diseases is hampered by the lack of tools to identify at-risk individuals. The plasma proteome could enable a systems-level assessment of health, but its clinical translation is limited by platform-specific biases and a focus on single diseases. METHODS: We aimed to develop and validate a clinically deployable proteomic classifier for multi-system risk prediction. Using data from 11,900 disease-free adults, we defined five ProteoHealth Archetypes (PHAs) via unsupervised learning. Critically, we trained a classifier using paired protein ratios to ensure robustness across measurement platforms. RESULTS: The ratio-based classifier successfully transferred PHA signatures in an internal validation cohort (n = 3,570) and, importantly, in three external cohorts profiled by different technologies (SomaScan and mass spectrometry). Each PHA exhibited distinct, highly reproducible risks for developing cardiometabolic, inflammatory/immune, neurovascular, and psychiatric diseases. Individuals in high-risk archetypes experienced significantly steeper declines in survival. Genome-wide association analyses identified loci associated with PHA liability, and two-sample Mendelian randomisation produced effect directions consistent with the observational disease association. The differential proteomes and enriched pathways aligned with the specific disease profiles of each archetype. CONCLUSIONS: PHAs provide an externally transferable, mechanistically interpretable map of baseline proteomic health that forecasts multisystem disease and survival, offering a scalable substrate for prevention, risk communication, and biomarker-guided stratification.

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Publication Details

Journal
Genome Medicine
Published
2026-06-16
DOI
https://doi.org/10.1186/s13073-026-01696-w
Primary Topic
Health, Environment, Cognitive Aging
Type
article
Field-Weighted Citation Impact
0.00

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article

Proteomic health archetypes identified in disease-free adults enable risk assessment for diverse chronic diseases

Changjing Cai, Xi Zhang, Yan Gao, H R Shen et al.
Genome Medicine
Health, Environment, Cognitive Aging
article

Proteomic health archetypes identified in disease-free adults enable risk assessment for diverse chronic diseases

Changjing Cai, Xi Zhang, Yan Gao, H R Shen, Peng Zhang, Xianliang Fan, Weizhen Yan, Yuanzhe Wang, Shan Zeng, Jiang Zhu
article en

Abstract

BACKGROUND: The prevention of common chronic diseases is hampered by the lack of tools to identify at-risk individuals. The plasma proteome could enable a systems-level assessment of health, but its clinical translation is limited by platform-specific biases and a focus on single diseases. METHODS: We aimed to develop and validate a clinically deployable proteomic classifier for multi-system risk prediction. Using data from 11,900 disease-free adults, we defined five ProteoHealth Archetypes (PHAs) via unsupervised learning. Critically, we trained a classifier using paired protein ratios to ensure robustness across measurement platforms. RESULTS: The ratio-based classifier successfully transferred PHA signatures in an internal validation cohort (n = 3,570) and, importantly, in three external cohorts profiled by different technologies (SomaScan and mass spectrometry). Each PHA exhibited distinct, highly reproducible risks for developing cardiometabolic, inflammatory/immune, neurovascular, and psychiatric diseases. Individuals in high-risk archetypes experienced significantly steeper declines in survival. Genome-wide association analyses identified loci associated with PHA liability, and two-sample Mendelian randomisation produced effect directions consistent with the observational disease association. The differential proteomes and enriched pathways aligned with the specific disease profiles of each archetype. CONCLUSIONS: PHAs provide an externally transferable, mechanistically interpretable map of baseline proteomic health that forecasts multisystem disease and survival, offering a scalable substrate for prevention, risk communication, and biomarker-guided stratification.

Genome Medicine
Central South University (CN), City University of Hong Kong (HK), University of Toronto (CA), HKU-Pasteur Research Pole (HK), Xiangya Hospital Central South University (CN), University of Hong Kong (HK)
National Natural Science Foundation of China, China Postdoctoral Science Foundation, Natural Science Foundation of Hunan Province
Good health and well-being
Openalex Percentile: Top 8%
Health, Environment, Cognitive Aging
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