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Title

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

Authors
Ramirez, Alfredo
van der Flier, Wiesje M
Herold, Christine
Ramonet, David
CollaborationWith : Popp, Julius
Published in Human Molecular Genetics. 2014, vol. 23, no. 24, p. 6644-6658
Abstract 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.
Keywords AgedAlzheimer Disease/cerebrospinal fluid/genetics/pathologyAmyloid beta-Peptides/cerebrospinal fluid/geneticsApolipoprotein E4/cerebrospinal fluid/geneticsCognitionFemaleGene Expression RegulationGenome-Wide Association StudyHumansMaleNuclear Proteins/cerebrospinal fluid/geneticsPeptide Fragments/cerebrospinal fluid/geneticsPhosphorylationPolymorphismSingle NucleotideRNA-Binding Proteins/cerebrospinal fluid/geneticsSerine-Arginine Splicing FactorsSignal Transductiontau Proteins/cerebrospinal fluid/genetics
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PMID: 25027320
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RAMIREZ, Alfredo et al. SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. In: Human Molecular Genetics, 2014, vol. 23, n° 24, p. 6644-6658. https://archive-ouverte.unige.ch/unige:106698

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Deposited on : 2018-07-27

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