Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease
Journal article, 2013

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.


single nucleotide polymorphisms

Alzheimer's disease



Jonny Daborg

University of Gothenburg

Sandra Holmgren

University of Gothenburg

Alexandra Abramsson

University of Gothenburg

Ulf Andreasson

University of Gothenburg

Madeleine Zetterberg

University of Gothenburg

Staffan Nilsson

University of Gothenburg

Chalmers, Mathematical Sciences, Mathematical Statistics

L. Minthon

Lund University

Ingmar Skoog

University of Gothenburg

Kaj Blennow

University of Gothenburg

Marcela Pekna

University of Gothenburg

Eric Hanse

University of Gothenburg

Henrik Zetterberg

University of Gothenburg

Journal of Alzheimers Disease

1387-2877 (ISSN)

Vol. 35 1 51-57

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