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Gerrish, A.* ; Russo, G.* ; Richards, A.* ; Moskvina, V.* ; Ivanov, D.* ; Harold, D.* ; Sims, R.* ; Abraham, R.* ; Hollingworth, P.* ; Chapman, J.* ; Hamshere, M.* ; Pahwa, J.S.* ; Dowzell, K.* ; Williams, A.* ; Jones, N.* ; Thomas, C.* ; Stretton, A.* ; Morgan, A.R.* ; Lovestone, S.* ; Powell, J.* ; Proitsi, P.* ; Lupton, M.K.* ; Brayne, C.* ; Rubinsztein, D.C.* ; Gill, M.* ; Lawlor, B.* ; Lynch, A.* ; Morgan, K.* ; Brown, K.S.* ; Passmore, P.A.* ; Craig, D.* ; McGuinness, B.* ; Todd, S.* ; Johnston, J.A.* ; Holmes, C.* ; Mann, D.* ; Smith, A.D.* ; Love, S.* ; Kehoe, P.G.* ; Hardy, J.* ; Mead, S.* ; Fox, N.* ; Rossor, M.* ; Collinge, J.* ; Maier, W.* ; Jessen, F.* ; Kölsch, H.* ; Heun, R.* ; Schürmann, B.* ; Bussche, H.* ; Heuser, I.* ; Kornhuber, J.* ; Wiltfang, J.* ; Dichgans, M.* ; Frölich, L.* ; Hampel, H.* ; Hüll, M.* ; Rujescu, D.* ; Goate, A.M.* ; Kauwe, J.S.* ; Cruchaga, C.* ; Nowotny, P.* ; Morris, J.C.* ; Mayo, K.* ; Livingston, G.* ; Bass, NJ.* ; Gurling, H.* ; McQuillin, A.* ; Gwilliam, R.* ; Deloukas, P.* ; Davies, G.* ; Harris, S.E.* ; Starr, J.M.* ; Deary, I.J.* ; Al-Chalabi, A.* ; Shaw, C.E.* ; Tsolaki, M.* ; Singleton, A.B.* ; Guerreiro, R.* ; Mühleisen, T.W.* ; Nöthen, M.M.* ; Moebus, S.* ; Jöckel, K.-H.* ; Klopp, N. ; Wichmann, H.-E. ; Carrasquillo, M.M.* ; Pankratz, V.S.* ; Younkin, S.G.* ; Jones, L.* ; Holmans, P.A.* ; O'Donovan, M.C.* ; Owen, M.J.* ; Williams, J.*

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.

J. Alzheimers Dis. 28, 377-387 (2012)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Rare mutations in AβPP, PSEN1, and PSEN2 cause uncommon early onset forms of Alzheimer's disease (AD), and common variants in MAPT are associated with risk of other neurodegenerative disorders. We sought to establish whether common genetic variation in these genes confer risk to the common form of AD which occurs later in life (>65 years). We therefore tested single-nucleotide polymorphisms at these loci for association with late-onset AD (LOAD) in a large case-control sample consisting of 3,940 cases and 13,373 controls. Single-marker analysis did not identify any variants that reached genome-wide significance, a result which is supported by other recent genome-wide association studies. However, we did observe a significant association at the MAPT locus using a gene-wide approach (p = 0.009). We also observed suggestive association between AD and the marker rs9468, which defines the H1 haplotype, an extended haplotype that spans the MAPT gene and has previously been implicated in other neurodegenerative disorders including Parkinson's disease, progressive supranuclear palsy, and corticobasal degeneration. In summary common variants at AβPP, PSEN1, and PSEN2 and MAPT are unlikely to make strong contributions to susceptibility for LOAD. However, the gene-wide effect observed at MAPT indicates a possible contribution to disease risk which requires further study.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Alzheimer's disease; amyloid-beta protein precursor; genetics; human; MAPT protein; PSEN1 protein; PSEN2 protein
Sprache englisch
Veröffentlichungsjahr 2012
HGF-Berichtsjahr 2012
ISSN (print) / ISBN 1387-2877
e-ISSN 1875-8908
Zeitschrift Journal of Alzheimer's Disease
Quellenangaben Band: 28, Heft: 2, Seiten: 377-387 Artikelnummer: , Supplement: ,
Verlag IOS Press
Begutachtungsstatus Peer reviewed
Institut(e) Research Unit Molecular Epidemiology (AME)
Institute of Epidemiology (EPI)
POF Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30503 - Chronic Diseases of the Lung and Allergies
30202 - Environmental Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-504200-001
G-503900-001
G-504090-001
PubMed ID 22027014
DOI 10.3233/JAD-2011-110824
WOS ID WOS:000300008800012
Scopus ID 84863081896
Erfassungsdatum 2012-03-05
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