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

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The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants. / Persyn, Elodie; Hanscombe, Ken; Howson, Joanna; Lewis, Cathryn; Traylor, Matthew; Markus, Hugh.

In: Nature Communications, 24.03.2020.

Research output: Contribution to journalArticle

Harvard

Persyn, E, Hanscombe, K, Howson, J, Lewis, C, Traylor, M & Markus, H 2020, 'The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants', Nature Communications.

APA

Persyn, E., Hanscombe, K., Howson, J., Lewis, C., Traylor, M., & Markus, H. (Accepted/In press). The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants. Nature Communications.

Vancouver

Persyn E, Hanscombe K, Howson J, Lewis C, Traylor M, Markus H. The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants. Nature Communications. 2020 Mar 24.

Author

Persyn, Elodie ; Hanscombe, Ken ; Howson, Joanna ; Lewis, Cathryn ; Traylor, Matthew ; Markus, Hugh. / The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants. In: Nature Communications. 2020.

Bibtex Download

@article{517f3d28817a4f31a3a83e35111445f1,
title = "The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants",
abstract = "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.",
author = "Elodie Persyn and Ken Hanscombe and Joanna Howson and Cathryn Lewis and Matthew Traylor and Hugh Markus",
year = "2020",
month = "3",
day = "24",
language = "English",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "Nature Publishing Group",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - The genetic basis of MRI markers of cerebral small vessel disease: a genome wide association study in 42,310 participants

AU - Persyn, Elodie

AU - Hanscombe, Ken

AU - Howson, Joanna

AU - Lewis, Cathryn

AU - Traylor, Matthew

AU - Markus, Hugh

PY - 2020/3/24

Y1 - 2020/3/24

N2 - 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.

AB - 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.

M3 - Article

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

ER -

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