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@ARTICLE{Caro:282911,
author = {Caro, Ilana and Western, Daniel and Namba, Shinichi and
Sun, Na and Kawaguchi, Shuji and He, Yunye and Fujita,
Masashi and Roshchupkin, Gennady and D'Aoust, Tim and
Duperron, Marie-Gabrielle and Sargurupremraj, Muralidharan
and Tsuchida, Ami and Koido, Masaru and Ahmadi, Marziehsadat
and Yang, Chengran and Timsina, Jigyasha and Ibanez, Laura
and Matsuda, Koichi and Suzuki, Yutaka and Oda, Yoshiya and
Kanai, Akinori and Jandaghi, Pouria and Munter, Markus and
Auld, Daniel and Astafeva, Iana and Puerta, Raquel and
Rotter, Jerome I and Psaty, Bruce M and Bis, Joshua C and
Longstreth, W. T. and Couffinhal, Thierry and
García-González, Pablo and Pytel, Vanesa and Marquié,
Marta and Cano, Amanda and Boada, Mercè and Joliot, Marc
and Lathrop, Mark and Le Grand, Quentin and Launer, Lenore J
and Wardlaw, Joanna M and Heiman, Myriam and Ruiz, Agustin
and Matthews, Paul M and Seshadri, Sudha and Fornage, Myriam
and Adams, Hieab and Mishra, Aniket and Trégouët,
David-Alexandre and Okada, Yukinori and Kellis, Manolis and
De Jager, Philip L and Tzourio, Christophe and Kamatani,
Yoichiro and Matsuda, Fumihiko and Cruchaga, Carlos and
Debette, Stéphanie},
title = {{P}roteogenomics in cerebrospinal fluid and plasma reveals
new biological fingerprint of cerebral small vessel
disease.},
journal = {Nature aging},
volume = {5},
number = {12},
issn = {2662-8465},
address = {London},
publisher = {Nature Research},
reportid = {DZNE-2025-01372},
pages = {2514 - 2531},
year = {2025},
abstract = {Cerebral small vessel disease (cSVD) is a leading cause of
stroke and dementia with no specific treatment, of which
molecular mechanisms remain poorly understood. To identify
potential biomarkers and therapeutic targets, we applied
Mendelian randomization to examine over 2,500 proteins
measured in plasma and, uniquely, cerebrospinal fluid, in
relation to magnetic resonance imaging (MRI) markers of cSVD
in more than 40,000 individuals. Here we show that 49
proteins are associated with MRI markers of cSVD, most
prominently in cerebrospinal fluid. We highlight
associations that are consistent across platforms and
ancestries, and supported by complementary observational
analyses, and we explore differences between fluids. The
proteins are enriched in pathways related to the
extracellular matrix, immune response and microglial
activity. Many also associate with stroke and dementia, and
several correspond to existing drug targets. Together, these
findings reveal a robust biological fingerprint of cSVD and
highlight opportunities for biomarker and drug discovery and
repositioning.},
keywords = {Cerebral Small Vessel Diseases: genetics / Cerebral Small
Vessel Diseases: cerebrospinal fluid / Cerebral Small Vessel
Diseases: blood / Cerebral Small Vessel Diseases: diagnostic
imaging / Humans / Biomarkers: blood / Biomarkers:
cerebrospinal fluid / Magnetic Resonance Imaging /
Proteogenomics: methods / Mendelian Randomization Analysis /
Male / Female / Aged / Biomarkers (NLM Chemicals)},
cin = {AG Breteler},
ddc = {610},
cid = {I:(DE-2719)1012001},
pnm = {354 - Disease Prevention and Healthy Aging (POF4-354)},
pid = {G:(DE-HGF)POF4-354},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:41266628},
doi = {10.1038/s43587-025-01006-w},
url = {https://pub.dzne.de/record/282911},
}