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.
Authors
- Changjing Cai (ORCID: https://orcid.org/0000-0002-9567-5582)
- Xi Zhang (ORCID: https://orcid.org/0000-0002-4638-3997)
- Yan Gao (ORCID: https://orcid.org/0000-0002-6852-2038)
- H R Shen
- Peng Zhang
- Xianliang Fan
- Weizhen Yan
- Yuanzhe Wang
- Shan Zeng
- Jiang Zhu
Institutions
- 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)
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
Funders
- National Natural Science Foundation of China
- China Postdoctoral Science Foundation
- Natural Science Foundation of Hunan Province