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

Jonny Daborg; Sandra Holmgren; Alexandra Abramsson; Ulf Andreasson; Madeleine Zetterberg; Staffan Nilsson; Lennart Minthon; Ingmar Skoog; Kaj Blennow; Marcela Pekna; Eric Hanse; Henrik Zetterberg

doi:10.3233/JAD-121930

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

Jonny Daborg, Sandra Holmgren, Alexandra Abramsson, Ulf Andreasson, Madeleine Zetterberg, Staffan Nilsson, Lennart Minthon, Ingmar Skoog, Kaj Blennow, Marcela Pekna, Eric Hanse, Henrik Zetterberg

Research output: Contribution to journal › Article › peer-review

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 were 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.

Original language	English
Pages (from-to)	51-57
Journal	Journal of Alzheimer's Disease
Volume	35
Issue number	1
DOIs	https://doi.org/10.3233/JAD-121930
Publication status	Published - 2013

Subject classification (UKÄ)

Neurology

Free keywords

Alzheimer's disease
complement
microglia
single nucleotide
polymorphisms

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10.3233/JAD-121930

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title = "Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease",

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 were 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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author = "Jonny Daborg and Sandra Holmgren and Alexandra Abramsson and Ulf Andreasson and Madeleine Zetterberg and Staffan Nilsson and Lennart Minthon and Ingmar Skoog and Kaj Blennow and Marcela Pekna and Eric Hanse and Henrik Zetterberg",

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doi = "10.3233/JAD-121930",

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TY - JOUR

T1 - Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease

AU - Daborg, Jonny

AU - Holmgren, Sandra

AU - Abramsson, Alexandra

AU - Andreasson, Ulf

AU - Zetterberg, Madeleine

AU - Nilsson, Staffan

AU - Minthon, Lennart

AU - Skoog, Ingmar

AU - Blennow, Kaj

AU - Pekna, Marcela

AU - Hanse, Eric

AU - Zetterberg, Henrik

PY - 2013

Y1 - 2013

N2 - 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 were 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.

AB - 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 were 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.

KW - Alzheimer's disease

KW - complement

KW - microglia

KW - single nucleotide

KW - polymorphisms

U2 - 10.3233/JAD-121930

DO - 10.3233/JAD-121930

M3 - Article

SN - 1387-2877

VL - 35

SP - 51

EP - 57

JO - Journal of Alzheimer's Disease

JF - Journal of Alzheimer's Disease

IS - 1

ER -

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

Abstract

Subject classification (UKÄ)

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