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Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study
E. Cuyvers, J. van der Zee, K. Bettens, S. Engelborghs, M. Vandenbulcke, C. Robberecht, L. Dillen, C. Merlin, N. Geerts, C. Graff, H. Thonberg, HH. Chiang, P. Pastor, S. Ortega-Cubero, MA. Pastor, J. Diehl-Schmid, P. Alexopoulos, L. Benussi, R....
Neurobiology of aging.
2015 ;
36 (5) :
2005.e15-22.
[pub] 20150219
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Perzistentní odkaz
https://www.medvik.cz/link/bmc16010425
Grantová podpora
NT12094
MZ0
CEP - Centrální evidence projektů
- MeSH
- adaptorové proteiny signální transdukční genetika MeSH
- Alzheimerova nemoc epidemiologie genetika MeSH
- genetická variace genetika MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metaanalýza jako téma MeSH
- riziko MeSH
- sekvenční analýza DNA MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Belgie MeSH
Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the sequestosome 1 (SQSTM1) gene with AD. We performed targeted resequencing of SQSTM1 in Flanders-Belgian AD patients selected to be enriched for a genetic background (n = 435) and geographically matched nonaffected individuals (n = 872) to investigate the role of both common and rare SQSTM1 variants. Results were extended to the European early-onset dementia cohorts (926 early-onset Alzheimer's disease [EOAD] patients and 1476 nonaffected individuals). Of the 61 detected exonic variants in SQSTM1, the majority were rare (n = 57). Rare variant (minor allele frequency <0.01) burden analysis did not reveal an increased frequency of rare variants in EOAD patients in any of the separate study populations nor when meta-analyzing all cohorts. Common variants p.D292= and p.R312= showed nominal association with AD (odds ratiop.D292= = 1.11 [95% confidence interval = 1-1.22], p = 0.04), only when including the Flanders-Belgian cohort in the meta-analysis. We cannot exclude a role of SQSTM1 genetic variability in late-onset AD, but our data indicate that SQSTM1 does not play a major role in the etiology of EOAD.
Alzheimer's Neuroimaging and Epidemiology Laboratory IRCCS Fatebenefratelli Brescia Italy
Center for Neuroscience and Cell Biology University of Coimbra Coimbra Portugal
Department of Geriatric Medicine Genetics Unit Karolinska University Hospital Stockholm Sweden
Department of Molecular Genetics VIB Antwerp Belgium
Department of Neurology Hospital Universitari Mutua de Terrassa Terrassa Barcelona Spain
Department of Pathology and Molecular Medicine Thomayer Hospital Prague Czech Republic
Department of Psychiatry and Psychotherapy Technische Universität München München Germany
Faculty of Medicine and Institute of Molecular Medicine University of Lisbon Lisbon Portugal
Institute of Pathology 3rd Medical Faculty of Charles University Prague Prague Czech Republic
Laboratory of Neurochemistry and Behavior Institute Born Bunge University of Antwerp Antwerp Belgium
Laboratory of Neurogenetics Institute Born Bunge University of Antwerp Antwerp Belgium
Memory Clinic of Fundaciò ACE Institut Català de Neurociències Aplicades Barcelona Spain
Citace poskytuje Crossref.org
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- $a Cuyvers, Elise $u Department of Molecular Genetics, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Laboratory of Neurochemistry and Behavior, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
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- $a Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study / $c E. Cuyvers, J. van der Zee, K. Bettens, S. Engelborghs, M. Vandenbulcke, C. Robberecht, L. Dillen, C. Merlin, N. Geerts, C. Graff, H. Thonberg, HH. Chiang, P. Pastor, S. Ortega-Cubero, MA. Pastor, J. Diehl-Schmid, P. Alexopoulos, L. Benussi, R. Ghidoni, G. Binetti, B. Nacmias, S. Sorbi, R. Sanchez-Valle, A. Lladó, E. Gelpi, MR. Almeida, I. Santana, J. Clarimon, A. Lleó, J. Fortea, A. de Mendonça, M. Martins, B. Borroni, A. Padovani, R. Matěj, Z. Rohan, A. Ruiz, GB. Frisoni, GM. Fabrizi, R. Vandenberghe, PP. De Deyn, C. Van Broeckhoven, K. Sleegers, . ,
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- $a Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the sequestosome 1 (SQSTM1) gene with AD. We performed targeted resequencing of SQSTM1 in Flanders-Belgian AD patients selected to be enriched for a genetic background (n = 435) and geographically matched nonaffected individuals (n = 872) to investigate the role of both common and rare SQSTM1 variants. Results were extended to the European early-onset dementia cohorts (926 early-onset Alzheimer's disease [EOAD] patients and 1476 nonaffected individuals). Of the 61 detected exonic variants in SQSTM1, the majority were rare (n = 57). Rare variant (minor allele frequency <0.01) burden analysis did not reveal an increased frequency of rare variants in EOAD patients in any of the separate study populations nor when meta-analyzing all cohorts. Common variants p.D292= and p.R312= showed nominal association with AD (odds ratiop.D292= = 1.11 [95% confidence interval = 1-1.22], p = 0.04), only when including the Flanders-Belgian cohort in the meta-analysis. We cannot exclude a role of SQSTM1 genetic variability in late-onset AD, but our data indicate that SQSTM1 does not play a major role in the etiology of EOAD.
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- $a van der Zee, Julie $u Department of Molecular Genetics, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Laboratory of Neurochemistry and Behavior, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
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- 700 1_
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- 700 1_
- $a Graff, Caroline $u Department of Neurobiology, Care Sciences and Society (NVS), Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden; Department of Geriatric Medicine, Genetics Unit, Karolinska University Hospital, Stockholm, Sweden.
- 700 1_
- $a Thonberg, Håkan $u Department of Neurobiology, Care Sciences and Society (NVS), Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden; Department of Geriatric Medicine, Genetics Unit, Karolinska University Hospital, Stockholm, Sweden.
- 700 1_
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- 700 1_
- $a Pastor, Pau $u Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, Pamplona, Spain; Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
- 700 1_
- $a Ortega-Cubero, Sara $u Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, Pamplona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
- 700 1_
- $a Pastor, Maria A $u Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain.
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
- $a Binetti, Giuliano $u Molecular Markers Laboratory-Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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- 700 1_
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