| dc.contributor.author | Persyn, E | |
| dc.contributor.author | Hanscombe, K | |
| dc.contributor.author | Howson, J | |
| dc.contributor.author | Lewis, C | |
| dc.contributor.author | Traylor, M | |
| dc.contributor.author | Markus, H | |
| dc.date.accessioned | 2020-08-19T14:50:18Z | |
| dc.date.available | 2020-03-24 | |
| dc.date.available | 2020-08-19T14:50:18Z | |
| dc.date.issued | 2020-05-01 | |
| dc.identifier.citation | Persyn, E., Hanscombe, K.B., Howson, J.M.M. et al. Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants. Nat Commun 11, 2175 (2020). https://doi.org/10.1038/s41467-020-15932-3 | en_US |
| dc.identifier.issn | 2041-1723 | |
| dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/66433 | |
| dc.description.abstract | Cerebral small vessel disease is a major cause of stroke and dementia, but its genetic basis is
incompletely understood. We perform a genetic study of three MRI markers of the disease in
UK Biobank imaging data and other sources: white matter hyperintensities (N = 42,310),
fractional anisotropy (N = 17,663) and mean diffusivity (N = 17,467). Our aim is to better
understand the disease pathophysiology. Across the three traits, we identify 31 loci, of which
21 were previously unreported. We perform a transcriptome-wide association study to
identify associations with gene expression in relevant tissues, identifying 66 associated genes
across the three traits. This genetic study provides insights into the understanding of the
biological mechanisms underlying small vessel disease. | en_US |
| dc.publisher | Nature Research (part of Springer Nature) | en_US |
| dc.relation.ispartof | Nature Communications | |
| dc.rights | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. | |
| dc.title | Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants | en_US |
| dc.type | Article | en_US |
| dc.rights.holder | © The Author(s) 2020 | |
| pubs.notes | Not known | en_US |
| pubs.publication-status | Accepted | en_US |
| dcterms.dateAccepted | 2020-03-24 | |
| rioxxterms.funder | Default funder | en_US |
| rioxxterms.identifier.project | Default project | en_US |
