Pulse Brain · Growing Health Evidence Index
Peer-reviewed

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

Marie‐Gabrielle Duperron, Maria J. Knol, Quentin Le Grand, Tavia E. Evans, Aniket Mishra, Ami Tsuchida, Gennady V. Roshchupkin, Takahiro Konuma, David‐Alexandre Trégouët, José R. Romero, Stefan Frenzel, Michelle Luciano, Edith Hofer, Mathieu Bourgey, Nicole Dueker, Pilar Delgado, Saima Hilal, Rick M. Tankard, Florian Dubost, Jean Shin, Yasaman Saba, Nicola J. Armstrong, Constance Bordes, Mark E. Bastin, Alexa Beiser, Henry Brodaty, Robin Bülow, Caty Carrera, Christopher Chen, Ching‐Yu Cheng, Ian J. Deary, Piyush Gampawar, Jayandra J. Himali, Jiyang Jiang, Takahisa Kawaguchi, Shuo Li, Mélissa Macalli, Pascale Marquis, Zoë Morris, Susana Muñoz Maniega, Susumu Miyamoto, Masakazu Okawa, Matthew Paradise, Pedram Parva, Tatjana Rundek, Muralidharan Sargurupremraj, Sabrina Schilling, Kazuya Setoh, Omar Soukarieh, Yasuharu Tabara, Alexander Teumer, Anbupalam Thalamuthu, Julian N. Trollor, Maria C. Valdés Hernández, Meike W. Vernooij, Uwe Völker, Katharina Wittfeld, Tien Yin Wong, Margaret J. Wright, Junyi Zhang, Wanting Zhao, Yi‐Cheng Zhu, Helena Schmidt, Perminder S. Sachdev, Wei Wen, Kazumichi Yoshida, Anne Joutel, Claudia L. Satizábal, Ralph L. Sacco, Guillaume Bourque, Quentin Le Grand, Mark Lathrop, Tomáš Paus, Israel Fernández‐Cadenas, Qiong Yang, Bernard Mazoyer, Philippe Boutinaud, Yukinori Okada, Hans J. Grabe, Karen A. Mather, Reinhold Schmidt, Marc Joliot, M. Arfan Ikram, Fumihiko Matsuda, Christophe Tzourio, Joanna M. Wardlaw, Sudha Seshadri, Hieab H.H. Adams, Stéphanie Debette

Nature Medicine · 2023

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Summary

Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.6 yr, 96.9% European ancestry) revealed 24 genome-wide significant PVS risk loci, mainly in the white matter. These were associated with white matter PVS already in young adults (N = 1,748; 22.1 ± 2.3 yr) and were enriched in early-onset leukodystrophy genes and genes expressed in fetal brain endothelial cells, suggesting early-life mechanisms. In total, 53% of white matter PVS risk loci showed nominally significant associations (27% after multiple-testing correction) in a Japanese population-based cohort (N = 2,862; 68

Subject
Other / interdisciplinary
Source type
Peer-reviewed study
System type
Other
DOI
10.1038/s41591-023-02268-w
Catalogue ID
SNmoj1yk7l-g4v675
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