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The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants

Research output: Contribution to journalArticle

Elodie Persyn, Ken Hanscombe, Joanna Howson, Cathryn Lewis, Matthew Traylor, Hugh Markus

Original languageEnglish
JournalNature Communications
Publication statusAccepted/In press - 24 Mar 2020

King's Authors


Cerebral small vessel disease is a major cause of stroke and dementia, but its genetic basis is incompletely understood. We performed 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 was to better understand the disease pathophysiology and to identify new therapeutic targets. Across the three traits, we identified 31 loci, of which 21 were novel. We performed 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 new insights into the understanding of the biological mechanisms underlying small vessel disease.

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