Evidence map›Paper›PMID 32358547›Full record

ArticleNature communications2020

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

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
123citing papers in PubMed, 3 pooled it
16.2field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

123 citing papers in PubMed, 3 syntheses or guidelines pooled it, 207 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026
    Review
  7. Article
  8. Article
  9. Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026
    Review
  10. Article
  11. Review
  12. Leveraging Mendelian randomization to inform drug discovery and development for ischemic stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026
    Review
  13. Article
  14. Article
  15. Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026
    Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

63 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Elodie PersynDepartment of Medical and Molecular Genetics, King's College London, London, UK.ORCID http://orcid.org/0000-0001-9104-1972
Ken B HanscombeDepartment of Medical and Molecular Genetics, King's College London, London, UK.
Joanna M M HowsonBHF, Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-7618-0050
Cathryn M Lewis *Department of Medical and Molecular Genetics, King's College London, London, UK.ORCID http://orcid.org/0000-0002-8249-8476
Matthew Traylor *Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Hugh S Markus *Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK. hsm32@medschl.cam.ac.uk.
King's College London · GBUniversity of Cambridge · GBQueen Mary University of London · GB

Funding

British Heart Foundation RG/13/13/30194British Heart Foundation RG/16/4/32218British Heart Foundation RG/18/13/33946Department of HealthMedical Research Council G9521010Medical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/M009203/1
6 · The paper itself

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.

Indexed as

AdultAgedBiomarkersCerebral Small Vessel DiseasesFemaleGene Expression RegulationGene OntologyGenetic LociGenome-Wide Association StudyHumansLeukoencephalopathiesMagnetic Resonance ImagingMaleMiddle AgedOrgan SpecificityPolymorphism, Single NucleotideBiomarkers

Identifiers

PMID32358547
PMCPMC7195435
OpenAlexW3023079795

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.