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

Author

Listed:
  • Elodie Persyn

    (King’s College London)

  • Ken B. Hanscombe

    (King’s College London)

  • Joanna M. M. Howson

    (University of Cambridge
    Novo Nordisk Research Centre Oxford, Innovation Building, Old Road Campus, Roosevelt Drive)

  • Cathryn M. Lewis

    (King’s College London
    King’s College London)

  • Matthew Traylor

    (University of Cambridge
    Queen Mary University of London)

  • Hugh S. Markus

    (University of Cambridge)

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.

Suggested Citation

  • Elodie Persyn & Ken B. Hanscombe & Joanna M. M. Howson & Cathryn M. Lewis & Matthew Traylor & Hugh S. Markus, 2020. "Genome-wide association study of MRI markers of cerebral small vessel disease in 42,310 participants," Nature Communications, Nature, vol. 11(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-020-15932-3
    DOI: 10.1038/s41467-020-15932-3
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    Cited by:

    1. Chun Chieh Fan & Robert Loughnan & Carolina Makowski & Diliana Pecheva & Chi-Hua Chen & Donald J. Hagler & Wesley K. Thompson & Nadine Parker & Dennis van der Meer & Oleksandr Frei & Ole A. Andreassen, 2022. "Multivariate genome-wide association study on tissue-sensitive diffusion metrics highlights pathways that shape the human brain," Nature Communications, Nature, vol. 13(1), pages 1-10, December.
    2. Lingyan Chen & James E. Peters & Bram Prins & Elodie Persyn & Matthew Traylor & Praveen Surendran & Savita Karthikeyan & Ekaterina Yonova-Doing & Emanuele Angelantonio & David J. Roberts & Nicholas A., 2022. "Systematic Mendelian randomization using the human plasma proteome to discover potential therapeutic targets for stroke," Nature Communications, Nature, vol. 13(1), pages 1-14, December.

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