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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

94 Citations (Scopus)
141 Downloads (Pure)

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.

Original languageEnglish
Article number2175
Number of pages12
JournalNature Communications
Volume11
Issue number1
Early online date1 May 2020
DOIs
Publication statusPublished - 1 May 2020

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