Evidence map›Paper›PMID 40172005›Full record

ArticleInternational journal of stroke : official journal of the International Stroke Society2025

Rare genetic variants in

Bibi M Wolters, Mark K Bakker, Kristiina Rannikmäe, Paul J Hop, Ynte M Ruigrok

Abstract read
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In one paragraph

Article in International journal of stroke : official journal of the International Stroke Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Review
  2. The genetics of the circle of Willis come full circle.European journal of human genetics : EJHG · 2026
    Article
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

5 authors.

Bibi M WoltersDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Mark K BakkerDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0002-7887-9014
Kristiina RannikmäeCentre for Medical Informatics, Usher Institute, The University of Edinburgh, Edinburgh, UK.
Paul J HopDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.
Ynte M RuigrokDepartment of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0002-5396-2989

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionFamily studies identified several rare genetic risk variants for intracranial aneurysms (IAs) and aneurysmal subarachnoid hemorrhage (ASAH). In addition, certain monogenic disorders caused by rare penetrant genetic variants predispose individuals to IA and ASAH. We investigated the effect of these variants on IA and ASAH in the general population. PATIENTS AND

methodsWe tested the association between genetic variants within IA-associated genes and IA and ASAH using a burden test, sequence kernel association test (SKAT), and variant-level aggregated Cauchy association test (ACAT-V) in the UK Biobank. Variants were stratified by allele frequency and predicted impact on the protein structure. Sensitivity analyses were performed on only ASAH patients and excluding participants diagnosed with an aforementioned monogenic disorder.

resultsIn the group of 1656 IA cases, including 928 ASAH cases, and 391,948 controls, associations were identified for ultrarare variants with moderate or high impact in DISCUSSION AND

conclusionUltrarare damaging variants in

Indexed as

Genetic Predisposition to DiseaseIntracranial AneurysmSmad2 ProteinSubarachnoid HemorrhageTRPP Cation ChannelsAgedAged, 80 and overExome SequencingFemaleGene FrequencyGenetic TestingGenetic VariationHumansMaleMiddle AgedUK BiobankSmad2 ProteinSMAD2 protein, humanTRPP Cation Channelsbioinformaticsgeneticsintracranial aneurysmpreventionstrokeSubarachnoid hemorrhage

Identifiers

PMID40172005
PMCPMC12446701

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Registered trials

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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.