A large meta-analysis of genome-wide association studies (N >40,000) on perivascular space (PVS) burden, an emerging brain imaging marker of cerebral small vessel disease, has revealed 24 genetic risk loci for extensive PVS burden. These findings provide novel insights into the biology and clinical significance of this trait.
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References
Debette, S. et al. Clinical significance of magnetic resonance imaging markers of vascular brain injury: a systematic review and meta-analysis. JAMA Neurol. 76, 81–94 (2019). A systematic review and meta-analysis that presents the association of different MRI-cSVD markers with risk of stroke and dementia.
Wardlaw, J. M. et al. Perivascular spaces in the brain: anatomy, physiology and pathology. Nat. Rev. Neurol. 16, 137–153 (2020). The most recent and comprehensive review on anatomy, physiology and pathology of perivascular spaces.
Duperron, M. G. et al. Burden of dilated perivascular spaces, an emerging marker of cerebral small vessel disease, is highly heritable. Stroke 49, 282–287 (2018). This paper provides evidence for the high heritability of PVS burden in older community persons.
Dubost, F. et al. Enlarged perivascular spaces in brain MRI: automated quantification in four regions. Neuroimage 185, 534–544 (2019). Describes the AI-powered approach used to quantify PVS in UKB and the Rotterdam Study 3.
Boutinaud, P. et al. Segmentation of perivascular spaces on T1-Weighted 3 Tesla MR images with a convolutional autoencoder and a U-shaped neural network. Front. Neuroinform. 15, 6416002021 (2021). Describes the AI-powered approach used to quantify PVS in the i-Share and Nagahama studies.
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This is a summary of: Duperron, M-G. et al. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease. Nat. Med. https://doi.org/10.1038/s41591-023-02268-w (2023).
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Genomics of perivascular space burden across the lifespan and across ancestries. Nat Med 29, 799–800 (2023). https://doi.org/10.1038/s41591-023-02269-9
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DOI: https://doi.org/10.1038/s41591-023-02269-9
