Evidence map›Paper›PMID 31732565›Full record

ArticleNeurology2020

Exome-chip association analysis of intracranial aneurysms.

Femke N G van 't Hof, Dongbing Lai, Jessica van Setten, Michiel L Bots, Ilonca Vaartjes, Joseph Broderick, Daniel Woo, Tatiana Foroud, Gabriel J E Rinkel, Paul I W de Bakker and 1 more

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Article in Neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
1.1field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

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3 · Its place in the literature

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0 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors at 1 institution in 2 countries.

Femke N G van 't HofFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH. ij.m.ruigrok@umcutrecht.nl.
Dongbing LaiFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Jessica van SettenFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Michiel L BotsFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Ilonca VaartjesFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Joseph BroderickFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Daniel WooFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Tatiana ForoudFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Gabriel J E RinkelFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
Paul I W de BakkerFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.ORCID 0000-0001-7735-7858
Ynte M RuigrokFrom the Department of Neurology and Neurosurgery (F.N.G.v.H., G.J.E.R., Y.M.R.), Brain Center Rudolf Magnus, Department of Cardiology (J.v.S.), Department of Medical Genetics (P.I.W.d.B.), Centre for Molecular Medicine, and Department of Epidemiology (M.L.B., I.V., P.I.W.d.B.), Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, the Netherlands; Department of Medical and Molecular Genetics (D.L., T.F.), Indiana University School of Medicine, Indianapolis; and Department of Neurology and Rehabilitation Medicine (J.B., D.W.), University of Cincinnati School of Medicine, OH.
University Medical Center Utrecht · NL

Funding

Familial Intracranial Aneurysm Study II (FIA II)R01NS039512 · NINDS · UNIVERSITY OF CINCINNATI · PI BRODERICK, JOSEPH PAUL · 2002 to 2010
$24.6M
Identifying Genes Contributing to Intracranial AneurysmsR03NS083468 · NINDS · INDIANA UNIVERSITY INDIANAPOLIS · PI FOROUD, TATIANA M. · 2013 to 2014
$155k
NINDS NIH HHS R01 NS039512NINDS NIH HHS R03 NS083468
6 · The paper itself

Abstract

objectiveTo investigate to what extent low-frequency genetic variants (with minor allele frequencies <5%) affect the risk of intracranial aneurysms (IAs).

methodsOne thousand fifty-six patients with IA and 2,097 population-based controls from the Netherlands were genotyped with the Illumina HumanExome BeadChip. After quality control (QC) of samples and single nucleotide variants (SNVs), we conducted a single variant analysis using the Fisher exact test. We also performed the variable threshold (VT) test and the sequence kernel association test (SKAT) at different minor allele count (MAC) thresholds of >5 and >0 to test the hypothesis that multiple variants within the same gene are associated with IA risk. Significant results were tested in a replication cohort of 425 patients with IA and 311 controls, and results of the 2 cohorts were combined in a meta-analysis.

resultsAfter QC, 995 patients with IA and 2,080 controls remained for further analysis. The single variant analysis comprising 46,534 SNVs did not identify significant loci at the genome-wide level. The gene-based tests showed a statistically significant association for fibulin 2 (

conclusionGene-based tests indicated an association for

Indexed as

AdolescentAdultAgedAged, 80 and overCalcium-Binding ProteinsCase-Control StudiesExomeExtracellular Matrix ProteinsFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeHumansIntracranial AneurysmMaleMiddle AgedCalcium-Binding ProteinsExtracellular Matrix Proteinsfibulin 2

Identifiers

PMID31732565
PMCPMC7080288
OpenAlexW2989117849

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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.