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Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants

Research output: Contribution to journalArticlepeer-review

Elodie Persyn, Ken B. Hanscombe, Joanna M.M. Howson, Cathryn M. Lewis, Matthew Traylor, Hugh S. Markus

Original languageEnglish
Article number2175
Number of pages12
JournalNature Communications
Issue number1
Early online date1 May 2020
Accepted/In press24 Apr 2020
E-pub ahead of print1 May 2020
Published1 May 2020


King's Authors


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.

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