SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease

Autor:	Wiesje M. van der Flier, Eckart Rüther, Henne Holstege, Johannes Kornhuber, Jens Wiltfang, Charlotte E. Teunissen, Alison Goate, Piotr Lewczuk, Carlos Cruchaga, David Ramonet, Frank Jessen, Markus M. Nöthen, Oliver Peters, Michael T. Heneka, Adam C. Naj, Markus P. Kummer, Christine Herold, Heike Kölsch, R. Heun, Wolfgang Maier, Philip Scheltens, Lutz Frölich, Amy Gerrish, Julius Popp, Vincent Chouraki, Céline Bellenguez, Alzheimer's Disease Neuroimaging Initiative, Dmitriy Drichel, Tim Becker, Lara Buscemi, André Lacour, Monique M.B. Breteler, Stefan Herms, Michael Hüll, Stefanie Heilmann, Alfredo Ramirez, Per Hoffmann, Eva Louwersheimer
Přispěvatelé:	Popp, Julius, Neurology, Laboratory Medicine, Human genetics, NCA - neurodegeneration
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	Apolipoprotein E Male cerebrospinal fluid [Apolipoprotein E4] Apolipoprotein E4 cerebrospinal fluid [Nuclear Proteins] genetics [Alzheimer Disease] Genome-wide association study cerebrospinal fluid [Amyloid beta-Peptides] pathology [Alzheimer Disease] Cerebrospinal fluid Cognition Medizinische Fakultät Genotype genetics [Amyloid beta-Peptides] genetics [RNA-Binding Proteins] Cognitive decline Phosphorylation genetics [Apolipoprotein E4] Genetics (clinical) Genetics Serine-Arginine Splicing Factors Association Studies Articles Nuclear Proteins RNA-Binding Proteins genetics [Nuclear Proteins] General Medicine Single Nucleotide amyloid beta-protein (1-42) cerebrospinal fluid [Alzheimer Disease] Female Alzheimer's disease Signal Transduction medicine.medical_specialty RNA-Binding Proteins/cerebrospinal fluid/genetics Single-nucleotide polymorphism tau Proteins Biology Polymorphism Single Nucleotide Alzheimer Disease ddc:570 Internal medicine medicine Dementia Humans cerebrospinal fluid [Peptide Fragments] cerebrospinal fluid [RNA-Binding Proteins] ddc:610 Polymorphism Molecular Biology Aged tau Proteins/cerebrospinal fluid/genetics Amyloid beta-Peptides Apolipoprotein E4/cerebrospinal fluid/genetics Nuclear Proteins/cerebrospinal fluid/genetics medicine.disease genetics [Peptide Fragments] Peptide Fragments genetics [tau Proteins] Amyloid beta-Peptides/cerebrospinal fluid/genetics Endocrinology cerebrospinal fluid [tau Proteins] Gene Expression Regulation Alzheimer Disease/cerebrospinal fluid/genetics/pathology Peptide Fragments/cerebrospinal fluid/genetics Genome-Wide Association Study
Zdroj:	Human Molecular Genetics, Vol. 23, No 24 (2014) pp. 6644-6658 Ramirez, A, van der Flier, W M, Herold, C, Ramonet, D, Heilmann, S, Lewczuk, P, Popp, J, Lacour, A, Drichel, D, Louwersheimer, E, Kummer, M P, Cruchaga, C, Hoffmann, P, Teunissen, C E, Holstege, H, Kornhuber, J, Peters, O, Naj, A C, Chouraki, V, Bellenguez, C, Gerrish, A, Heun, R, Frolich, L, Hull, M, Buscemi, L, Herms, S, Kolsch, H, Scheltens, P, Breteler, M M, Ruther, E, Wiltfang, J, Goate, A, Jessen, F, Maier, W, Heneka, M T, Becker, T & Nothen, M M 2014, ' SUCLG2 identified as both a determinator of CSF Abeta1-42 levels and an attenuator of cognitive decline in Alzheimer's disease ', Human Molecular Genetics, vol. 23, no. 24, pp. 6644-6658 . https://doi.org/10.1093/hmg/ddu372 Human molecular genetics 23(24), 6644-6658 (2014). doi:10.1093/hmg/ddu372 Human Molecular Genetics, 23(24), 6644-6658. Oxford University Press
ISSN:	6225-6378 0964-6906
DOI:	10.1093/hmg/ddu372
Popis:	Cerebrospinal fluid amyloid-beta 1-42 (Aβ1-42) and phosphorylated Tau at position 181 (pTau181) are biomarkers of Alzheimer's disease (AD). We performed an analysis and meta-analysis of genome-wide association study data on Aβ1-42 and pTau181 in AD dementia patients followed by independent replication. An association was found between Aβ1-42 level and a single-nucleotide polymorphism in SUCLG2 (rs62256378) (P = 2.5×10(-12)). An interaction between APOE genotype and rs62256378 was detected (P = 9.5 × 10(-5)), with the strongest effect being observed in APOE-ε4 noncarriers. Clinically, rs62256378 was associated with rate of cognitive decline in AD dementia patients (P = 3.1 × 10(-3)). Functional microglia experiments showed that SUCLG2 was involved in clearance of Aβ1-42.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e0346a024e4af22aa36d41fa2a4beaf http://doc.rero.ch/record/296237/files/ddu372.pdf Zobrazit plný text záznamu