Evidence map›Paper›PMID 24323303›Full record

ArticleTranslational stroke research2013

Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.

Kim Boshuisen, Manon Brundel, Carolien G F de Kovel, Tom G Letteboer, Gabriel J E Rinkel, Cornelis J J Westermann, Helen Kim, Ludmila Pawlikowska, Bobby P C Koeleman, Catharina J M Klijn

Abstract read
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In one paragraph

Article in Translational stroke research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

7 citing papers in PubMed, 18 citations in OpenAlex.

  1. Review
  2. Childhood stroke.Nature reviews. Disease primers · 2022
    Review
  3. Identification of a rareHuman genome variation · 2018
    Article
  4. Article
  5. Genome-wide association study of sporadic brain arteriovenous malformations.Journal of neurology, neurosurgery, and psychiatry · 2016
    Article
  6. Article
  7. Review
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

10 authors at 4 institutions in 2 countries.

Kim Boshuisen *Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.
Manon Brundel *Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.
Carolien G F de KovelDepartment of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.
Tom G LetteboerDepartment of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.
Gabriel J E RinkelDepartment of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.
Cornelis J J WestermannDepartment of Pulmonology, St. Antonius Hospital, Koekoekslaan 1, 3435 CM, Nieuwegein, The Netherlands.
Helen KimDepartment of Anesthesia and Perioperative Care and Department of Epidemiology and Biostatistics, University of California, San Francisco, 500 Parnassus Avenue, San Francisco, CA 94143-0244, USA.
Ludmila PawlikowskaDepartment of Anesthesia and Perioperative Care and Department of Epidemiology and Biostatistics, University of California, San Francisco, 500 Parnassus Avenue, San Francisco, CA 94143-0244, USA.
Bobby P C KoelemanDepartment of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.
Catharina J M KlijnDepartment of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, 3484CX, The Netherlands.
Utrecht University · NLUniversity Medical Center Utrecht · NLUniversity of California, San Francisco · USSt. Antonius Ziekenhuis · NL

Funding

Underlying mechanisms for the pro-angiogenic phenotype of AVMsP01NS044155 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SU, HUA · 2003 to 2013
$12.8M
PREDICTORS OF SPONTANEOUS CEREBRAL AVM HEMORRHAGER01NS034949 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KIM, HELEN · 1995 to 2017
$6.5M
NINDS NIH HHS P01 NS044155NINDS NIH HHS R01 NS034949
6 · The paper itself

Abstract

We aimed to replicate the association of the IVS3-35A>G polymorphism in the activin receptor-like kinase (ACVRL) 1 gene and the 207G>A polymorphism in the endoglin (ENG) gene with sporadic brain arteriovenous malformations (BAVM) in Dutch BAVM patients. In addition, we assessed whether these polymorphisms contribute to the risk of BAVM in patients with hereditary haemorrhagic telangiectasia type 1 (HHT1). We genotyped 143 Dutch sporadic BAVM patients and 360 healthy volunteers for four variants in the ACVRL1 gene including IVS3-35A>G and two variants in the ENG gene including 207G>A. Differences in allele and genotype frequencies between sporadic BAVM patients and controls and their combined effect were analysed with a likelihood ratio test. Furthermore, we compared the allele and genotype frequencies between 24 HHT1 patients with a BAVM with those of a relative with HHT1 without a BAVM in a matched pair analysis using Wilcoxon signed rank test. No significant differences in allele frequency were found between sporadic BAVM cases and controls or between HHT1 patients with and without BAVM for any of the polymorphisms or the combination of ACVRL1 and ENG polymorphisms. Meta-analysis of the current and the two previous studies for the ACVRL1 IVS3-35A polymorphism showed a persisting association between the ACVRL1 IVS3-35A polymorphism and risk of sporadic BAVM (odds ratio, 1.86; 95% CI: 1.32-2.61, p<0.001). We did not replicate the previously found association between a polymorphism in ACVRL1 IVS3-35A>G and BAVM in Dutch patients. However, meta-analysis did not rule out a possible effect.

Indexed as

Activin Receptors, Type IIAntigens, CDCase-Control StudiesEndoglinFemaleGenotypeHumansIntracranial Arteriovenous MalformationsMaleMiddle AgedNetherlandsPedigreePolymorphism, Single NucleotideReceptors, Cell SurfaceTelangiectasia, Hereditary HemorrhagicActivin Receptors, Type IIACVRL1 protein, humanAntigens, CDEndoglinENG protein, humanReceptors, Cell Surface

Identifiers

PMID24323303
PMCPMC4038301
OpenAlexW1986571699

What OpenQuestion holds

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Read underepoch 390

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.