Evidence map›Paper›PMID 25053769›Full record

SynthesisJournal of neurology, neurosurgery, and psychiatry2015

Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain.

P H C Kremer, B P C Koeleman, L Pawlikowska, S Weinsheimer, N Bendjilali, S Sidney, J G Zaroff, G J E Rinkel, L H van den Berg, Y M Ruigrok and 4 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Journal of neurology, neurosurgery, and psychiatry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Long non-coding RNA ANRIL in gene regulation and its duality in atherosclerosis.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2017
    Review
  8. Association ofClinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2017
    Article
  9. Genome-wide association study of sporadic brain arteriovenous malformations.Journal of neurology, neurosurgery, and psychiatry · 2016
    Article
  10. 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

14 authors.

P H C KremerDepartment of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
B P C KoelemanDepartment of Biomedical Genetics and Complex Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
L PawlikowskaDepartment of Anesthesia, Center for Cerebrovascular Research, University of California-San Francisco, San Francisco, California, USA Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
S WeinsheimerDepartment of Anesthesia, Center for Cerebrovascular Research, University of California-San Francisco, San Francisco, California, USA.
N BendjilaliDepartment of Anesthesia, Center for Cerebrovascular Research, University of California-San Francisco, San Francisco, California, USA.
S SidneyDivision of Research, Kaiser Permanente of Northern California, Oakland, California, USA.
J G ZaroffDivision of Research, Kaiser Permanente of Northern California, Oakland, California, USA.
G J E RinkelDepartment of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0001-8930-3953
L H van den BergDepartment of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Y M RuigrokDepartment of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
G A P de KortDepartment of Radiology, University Medical Center Utrecht, Utrecht, The Netherlands.
J H VeldinkDepartment of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
H KimDepartment of Anesthesia, Center for Cerebrovascular Research, University of California-San Francisco, San Francisco, California, USA Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, California, USA.
C J M KlijnDepartment of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.

Funding

Underlying mechanisms for the pro-angiogenic phenotype of AVMsP01NS044155 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI HASHIMOTO, TOMOKI · 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
Expression and function of the human PERV A receptorsR01AI052349 · NIAID · SCRIPPS RESEARCH INSTITUTE · PI SALOMON, DANIEL R. · 2002 to 2005
$1.7M
Expression and function of the human PERV A receptorsR56AI052349 · NIAID · SCRIPPS RESEARCH INSTITUTE, THE · PI SALOMON, DANIEL R. · 2007 to 2007
$426k
NIAID NIH HHS R01 AI052349NIAID NIH HHS R56 AI052349NIAID NIH HHS U19 AI52349NINDS NIH HHS P01 NS044155NINDS NIH HHS P50 NS2372NINDS NIH HHS R01 NS034949
6 · The paper itself

Abstract

backgroundIn genome-wide association studies (GWAS) five putative risk loci are associated with intracranial aneurysm. As brain arteriovenous malformations (AVM) and intracranial aneurysms are both intracranial vascular diseases and AVMs often have associated aneurysms, we investigated whether these loci are also associated with sporadic brain AVM.

methodsWe included 506 patients (168 Dutch, 338 American) and 1548 controls, all Caucasians. Controls had been recruited as part of previous GWAS. Dutch patients were genotyped by KASPar assay and US patients by Affymetrix SNP 6.0 array. Associations in each cohort were tested by univariable logistic regression modelling, with subgroup analysis in 205 American cases with aneurysm data. Meta-analysis was performed by a Mantel-Haenszel fixed-effect method.

resultsIn the Dutch cohort none of the single nucleotide polymorphisms (SNPs) were associated with AVMs. In the American cohort, genotyped SNPs near SOX-17 (OR 0.74; 95% CI 0.56-0.98), RBBP8 (OR 0.76; 95% CI 0.62-0.94) and an imputed SNP near CDKN2B-AS1 (OR 0.79; 95% CI 0.64-0.98) were significantly associated with AVM. The association with SNPs near SOX-17 and CDKN2B-AS1 but not RBBP8 were strongest in patients with AVM with associated aneurysms. In the meta-analysis we found no significant associations between allele frequencies and AVM occurrence, but rs9298506, near SOX-17 approached statistical significance (OR 0.77; 95% CI 0.57-1.03, p=0.08).

conclusionsOur meta-analysis of two Caucasian cohorts did not show an association between five aneurysm-associated loci and sporadic brain AVM. Possible involvement of SOX-17 and RBBP8, genes involved in cell cycle progression, deserves further investigation.

Indexed as

Carrier ProteinsCase-Control StudiesCation Transport ProteinsCyclinsEndodeoxyribonucleasesGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGTPase-Activating ProteinsHumansIntracranial AneurysmIntracranial Arteriovenous MalformationsNuclear ProteinsPolymorphism, Single NucleotideRNA, Long NoncodingSOXF Transcription FactorsCarrier ProteinsCation Transport ProteinsCDKN2B antisense RNA, humanCNNM2 protein, humanCyclinsEndodeoxyribonucleasesGTPase-Activating ProteinsNuclear ProteinsRBBP8 protein, humanRNA, Long NoncodingSOXF Transcription FactorsSTARD13 protein, humanTumor Suppressor ProteinsCEREBROVASCULAR DISEASEGENETICSSTROKE

Identifiers

PMID25053769
PMCPMC4302044

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.