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Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease

Journal article
Authors Jonny Daborg
Sandra Holmgren
Alexandra Abramsson
Ulf Andreasson
Madeleine Zetterberg
Staffan Nilsson
L Minthon
Ingmar Skoog
Kaj Blennow
Marcela Pekna
Eric Hanse
Henrik Zetterberg
Published in Journal of Alzheimer's Disease
Volume 35
Issue 1
Pages 51-57
ISSN 1387-2877
Publication year 2013
Published at Institute of Neuroscience and Physiology, Department of Physiology
Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Department of Mathematical Sciences, Mathematical Statistics
Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Pages 51-57
Language en
Links dx.doi.org/10.3233/JAD-121930
Keywords Alzheimer's disease, complement, microglia, single nucleotide polymorphisms
Subject categories Neurochemistry, Other Medical Sciences

Abstract

The complement system has been implicated in both physiological synapse elimination and Alzheimer's disease (AD). Here, we investigated associations between four single nucleotide polymorphisms (SNPs) in complement genes and cerebrospinal fluid (CSF) biomarkers for AD in 452 neurochemically or neuropathologically verified AD cases and 678 cognitively normal controls. None of the SNPs associated with risk of AD but there were potential associations of rs9332739 in the C2 gene and rs4151667 in the complement factor B gene with CSF tau levels (p = 0.023) and Mini-Mental State Examination scores (p = 0.012), both of which may be considered markers of disease intensity/severity.

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