Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Aged Alzheimer Disease / genetics Amyloid beta-Peptides / analysis Apolipoproteins E / genetics Australia Biomarkers / analysis Brain / pathology Female Genetic Association Studies Humans Male Membrane Transport Proteins / genetics Mitochondrial Precursor Protein Import Complex Proteins Polymorphism, Single Nucleotide / genetics

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
19 11 2019
Historique:
received: 05 02 2019
accepted: 04 11 2019
entrez: 21 11 2019
pubmed: 21 11 2019
medline: 4 11 2020
Statut: epublish

Résumé

The accumulation of brain amyloid β (Aβ) is one of the main pathological hallmarks of Alzheimer's disease (AD). However, the role of brain amyloid deposition in the development of AD and the genetic variants associated with this process remain unclear. In this study, we sought to identify associations between Aβ deposition and an a priori evidence based set of 1610 genetic markers, genotyped from 505 unrelated individuals (258 Aβ+ and 247 Aβ-) enrolled in the Australian Imaging, Biomarker & Lifestyle (AIBL) study. We found statistically significant associations for 6 markers located within intronic regions of 6 genes, including AC103796.1-BDNF, PPP3R1, NGFR, KL, ABCA7 & CALHM1. Although functional studies are required to elucidate the role of these genes in the accumulation of Aβ and their potential implication in AD pathophysiology, our findings are consistent with results obtained in previous GWAS efforts.

Identifiants

DOI: 10.1038/s41598-019-53604-5 PMID: 31745181 PMC: PMC6863876
pubmed: 31745181
doi: 10.1038/s41598-019-53604-5
pii: 10.1038/s41598-019-53604-5
pmc: PMC6863876
doi:

Substances chimiques

Amyloid beta-Peptides 0
Apolipoproteins E 0
Biomarkers 0
Membrane Transport Proteins 0
Mitochondrial Precursor Protein Import Complex Proteins 0
TOMM40 protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Validation Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

17069

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Auteurs

Michael Vacher (M)

CSIRO Health and Biosecurity, Australian e-Health Research Centre, Floreat, 6014, Western Australia, Australia. michael.vacher@csiro.au.
ORCID: 0000-0003-0375-8370

Tenielle Porter (T)

Collaborative Genomics Group, Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia.
Cooperative Research Centre for Mental Health, Carlton South, 3053, Victoria, Australia.
ORCID: 0000-0002-7887-6622

Victor L Villemagne (VL)

Department of Nuclear Medicine and Centre for PET, Austin Health, Heidelberg, 3084, Victoria, Australia.
The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, 3052, Victoria, Australia.
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, 3084, Victoria, Australia.

Lidija Milicic (L)

Collaborative Genomics Group, Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia.

Madeline Peretti (M)

Collaborative Genomics Group, Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia.

Christopher Fowler (C)

The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, 3052, Victoria, Australia.

Ralph Martins (R)

Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia.

Stephanie Rainey-Smith (S)

Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia.

David Ames (D)

National Ageing Research Institute, Parkville, 3052, Victoria, Australia.

Colin L Masters (CL)

The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, 3052, Victoria, Australia.

Christopher C Rowe (CC)

Department of Nuclear Medicine and Centre for PET, Austin Health, Heidelberg, 3084, Victoria, Australia.
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, 3084, Victoria, Australia.

James D Doecke (JD)

CSIRO Health and Biosecurity, Australian e-Health Research Centre, Herston, 4029, Queensland, Australia.
ORCID: 0000-0003-2863-0293

Simon M Laws (SM)

Collaborative Genomics Group, Centre of Excellence for Alzheimer's Disease Research and Care, School of Medical and Health Sciences, Edith Cowan University, Joondalup, 6027, Western Australia, Australia.
Cooperative Research Centre for Mental Health, Carlton South, 3053, Victoria, Australia.
School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin Health Innovation Research Institute, Curtin University, Bentley, 6102, Western Australia, Australia.
ORCID: 0000-0002-4355-7082

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Maladie d'Alzheimer › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Peptides bêta-amyloïdes › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Lipoprotéines › Apolipoprotéines › Apolipoprotéines E › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Régions géographiques › Océanie › Australasie › Australie › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › Protéines de transport de la membrane mitochondriale › Protéines du complexe d'import des protéines précurseurs mitochondriales › Validation of a priori candidate Alzheimer's...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Validation of a priori candidate Alzheimer's...