To the best of our knowledge, this study provides the first comprehensive proteogenomic map of cerebral small vessel disease, identifying proteins and pathways involved in its pathophysiology and highlighting potential biomarkers and therapeutic targets for this extremely common and disabling condition, which is a leading cause of stroke and dementia.
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References
Wardlaw, J. M. et al. ESO guideline on covert cerebral small vessel disease. Eur. Stroke J. 6, CXI–CLXII (2021). A review that presents guidelines and MRI markers of cSVD.
Duering, M. et al. Neuroimaging standards for research into small vessel disease-advances since 2013. Lancet Neurol. 22, 602–618 (2023). A paper that reports the neuroimaging standards for cSVD.
Bordes, C., Sargurupremraj, M., Mishra, A. & Debette, S. Genetics of common cerebral small vessel disease. Nat. Rev. Neurol. 18, 84–101 (2022). A review that presents genetics findings of cSVD from genome wide association studies.
Western, D. et al. Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease. Nat. Genet. 56, 2672–2684 (2024). A paper that reports the pQTL from CSF used in this work.
Ferkingstad, E. et al. Large-scale integration of the plasma proteome with genetics and disease. Nat. Genet. 53, 1712–1721 (2021). A paper that reports the pQTL from plasma used in this work.
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This is a summary of: Caro, I. et al. Proteogenomics in cerebrospinal fluid and plasma reveals new biological fingerprint of cerebral small vessel disease. Nat. Aging https://doi.org/10.1038/s43587-025-01006-w (2025).
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Proteogenomics uncovers biological fingerprints of small vessel disease. Nat Aging 5, 2376–2377 (2025). https://doi.org/10.1038/s43587-025-01041-7
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DOI: https://doi.org/10.1038/s43587-025-01041-7
