Exome-chip association analysis of intracranial aneurysms.

Adolescent Adult Aged Aged, 80 and over Calcium-Binding Proteins / genetics Case-Control Studies Exome / genetics Extracellular Matrix Proteins / genetics Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Intracranial Aneurysm / genetics Male Middle Aged Netherlands Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide Young Adult

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
04 02 2020
Historique:
received: 15 01 2019
accepted: 01 08 2019
pubmed: 17 11 2019
medline: 19 5 2020
entrez: 17 11 2019
Statut: ppublish

Résumé

To investigate to what extent low-frequency genetic variants (with minor allele frequencies <5%) affect the risk of intracranial aneurysms (IAs). One 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. After 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 ( Gene-based tests indicated an association for

Identifiants

DOI: 10.1212/WNL.0000000000008665 PMID: 31732565 PMC: PMC7080288
pubmed: 31732565
pii: WNL.0000000000008665
doi: 10.1212/WNL.0000000000008665
pmc: PMC7080288
doi:

Substances chimiques

Calcium-Binding Proteins 0
Extracellular Matrix Proteins 0
fibulin 2 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e481-e488

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS039512
Pays : United States
Organisme : NINDS NIH HHS
ID : R03 NS083468
Pays : United States

Informations de copyright

© 2019 American Academy of Neurology.

Références

Nat Genet. 2008 Dec;40(12):1472-7
pubmed: 18997786
Am J Hum Genet. 2010 Jun 11;86(6):832-8
pubmed: 20471002
Stroke. 2015 Aug;46(8):2299-301
pubmed: 26111891
Nat Genet. 2014 Apr;46(4):345-51
pubmed: 24633158
Stroke. 2014 Nov;45(11):3194-9
pubmed: 25256182
Nucleic Acids Res. 2014 Jan;42(Database issue):D756-63
pubmed: 24259432
Nat Genet. 2018 Mar;50(3):338-343
pubmed: 29379198
Nat Genet. 2013 Feb;45(2):197-201
pubmed: 23263489
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Nat Protoc. 2014 Nov;9(11):2643-62
pubmed: 25321409
Eur J Epidemiol. 2005;20(3):285-7
pubmed: 15921047
Nat Genet. 2006 Aug;38(8):904-9
pubmed: 16862161
Nat Genet. 2016 Oct;48(10):1162-70
pubmed: 27618448
Arterioscler Thromb Vasc Biol. 2010 Jan;30(1):68-74
pubmed: 19893004
Sci Rep. 2016 Jul 08;6:29351
pubmed: 27389768
Bioinformatics. 2012 Oct 1;28(19):2543-5
pubmed: 22843986
Nat Neurosci. 2016 Apr;19(4):571-7
pubmed: 26974950
PLoS Genet. 2014 Jan 30;10(1):e1004147
pubmed: 24497850
Brain. 2008 Oct;131(Pt 10):2662-5
pubmed: 18819992
Am J Hum Genet. 2011 Sep 9;89(3):354-67
pubmed: 21885029
Bioinformatics. 2016 May 1;32(9):1423-6
pubmed: 27153000
Nat Genet. 2010 May;42(5):420-5
pubmed: 20364137
Biometrics. 1999 Dec;55(4):997-1004
pubmed: 11315092
Bioinformatics. 2003 Jan;19(1):149-50
pubmed: 12499305
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Proc Natl Acad Sci U S A. 2011 Dec 6;108(49):19707-12
pubmed: 22106312
Am J Hum Genet. 2011 Jul 15;89(1):82-93
pubmed: 21737059
PLoS Genet. 2014 Jan 30;10(1):e1004134
pubmed: 24497844
Nat Rev Genet. 2018 Feb;19(2):110-124
pubmed: 29225335
Nat Genet. 2013 Nov;45(11):1366-70
pubmed: 24036952

Auteurs

Femke N G van 't Hof (FNG)

From 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 Lai (D)

From 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 Setten (J)

From 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 Bots (ML)

From 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 Vaartjes (I)

From 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 Broderick (J)

From 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 Woo (D)

From 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 Foroud (T)

From 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 Rinkel (GJE)

From 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 Bakker (PIW)

From 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 Ruigrok (YM)

From 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.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

Recherchemedicale.com › Personnes › Tranches d'âge › Adolescent › Exome-chip association analysis of...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Exome-chip association analysis of...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Sujet âgé › Exome-chip association analysis of...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Sujet âgé › Sujet âgé de 80 ans ou plus › Exome-chip association analysis of...
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines de transport › Protéines de liaison au calcium › Exome-chip association analysis of...
Recherchemedicale.com › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Exome-chip association analysis of...
Recherchemedicale.com › Phénomènes génétiques › Structures génétiques › Génome › Exome › Exome-chip association analysis of...
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Scléroprotéines › Protéines de la matrice extracellulaire › Exome-chip association analysis of...
Recherchemedicale.com › Phénomènes génétiques › Fréquence d'allèle › Exome-chip association analysis of...
Recherchemedicale.com › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Exome-chip association analysis of...
Recherchemedicale.com › Phénomènes génétiques › Génotype › Exome-chip association analysis of...
Recherchemedicale.com › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Exome-chip association analysis of...
Recherchemedicale.com › Maladies cardiovasculaires › Maladies vasculaires › Angiopathies intracrâniennes › Artériopathies intracrâniennes › Anévrysme intracrânien › Exome-chip association analysis of...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Exome-chip association analysis of...
Recherchemedicale.com › Régions géographiques › Europe › Pays-Bas › Exome-chip association analysis of...
Recherchemedicale.com › Techniques d'investigation › Techniques de sonde moléculaire › Séquençage par oligonucléotides en batterie › Exome-chip association analysis of...
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Exome-chip association analysis of...
Recherchemedicale.com › Personnes › Tranches d'âge › Adulte › Jeune adulte › Exome-chip association analysis of...