Evidence map›Paper›PMID 31719132›Full record

ArticleNeurology2019

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Rhea Y Y Tan, Matthew Traylor, Karyn Megy, Daniel Duarte, Sri V V Deevi, Olga Shamardina, Rutendo P Mapeta, NIHR BioResource: Rare Diseases Consortium, Willem H Ouwehand, Stefan Gräf and 2 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
3.6field-weighted citation impact, top 7% 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

26 citing papers in PubMed, 44 citations in OpenAlex.

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  14. Association BetweenPharmacogenomics and personalized medicine · 2023
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  19. Stroke-associated intergenic variants modulate a human FOXF2 transcriptional enhancer.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
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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

12 authors at 1 institution in 2 countries.

Rhea Y Y TanFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK. yyrt2@medschl.cam.ac.uk.
Matthew TraylorFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
Karyn MegyFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.ORCID 0000-0002-2826-3879
Daniel DuarteFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
Sri V V DeeviFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.ORCID 0000-0002-0405-4335
Olga ShamardinaFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
Rutendo P MapetaFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
NIHR BioResource: Rare Diseases Consortium
Willem H OuwehandFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
Stefan GräfFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
Kate DownesFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
Hugh S MarkusFrom the Stroke Research Group, Department of Clinical Neurosciences (R.Y.Y.T., M.T., H.S.M.), Department of Haematology (K.M., D.D., S.V.V.D., O.S., R.P.M., W.H.O., S.G., K.D.), and Division of Respiratory Medicine, Department of Medicine (S.G.), University of Cambridge; and NIHR BioResource: Rare Diseases (K.M., S.V.V.D., O.S., R.P.M., W.H.O., S.G., H.S.M.), Biomedical Campus, Cambridge, UK.
Norwegian Womens Public Health Association · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo determine the frequency of rare and pertinent disease-causing variants in small vessel disease (SVD)-associated genes (such as

methodsWe designed a high-throughput sequencing panel to identify variants in 15 genes (7 known SVD genes, 8 SVD-related disorder genes). The panel was used to screen a population of 950 patients with younger-onset (≤70 years) MRI-confirmed SVD stroke, recruited from stroke centers across the United Kingdom. Variants were filtered according to their frequency in control databases, predicted effect, presence in curated variant lists, and combined annotation dependent depletion scores. Whole genome sequencing and genotyping were performed on a subset of patients to provide a direct comparison of techniques. The frequency of known disease-causing and pertinent variants of uncertain significance was calculated.

resultsWe identified previously reported variants in 14 patients (8 cysteine-changing

conclusionRare monogenic variants account for about 1.5% of younger onset lacunar stroke. Most are cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy variants, but the second most common gene affected is

Indexed as

AgedAge of OnsetCADASILCerebral Amyloid Angiopathy, FamilialCerebral Small Vessel DiseasesConnective Tissue DiseasesFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMigraine with AuraMutationStroke, Lacunar

Identifiers

PMID31719132
PMCPMC6913325
OpenAlexW2949673820

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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.