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Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation.

Abstract：

:Alzheimer's disease (AD) and age-related macular degeneration (AMD) are both neurodegenerative disorders which share common pathological and biochemical features of the complement pathway. The aim of this study was to investigate whether there is an association between well replicated AMD genetic risk factors and AD. A large cohort of AD (n = 3898) patients and controls were genotyped for single nucleotide polymorphisms (SNPs) in the complement factor H (CFH), the Age-related maculopathy susceptibility protein 2 (ARMS2) the complement component 2 (C2), the complement factor B (CFB), and the complement component 3 (C3) genes. While significant but modest associations were identified between the complement factor H, the age-related maculopathy susceptibility protein 2, and the complement component 3 single nucleotide polymorphisms and AD, these were different in direction or genetic model to that observed in AMD. In addition the multilocus genetic model that predicts around a half of the sibling risk for AMD does not predict risk for AD. Our study provides further support to the hypothesis that while activation of the alternative complement pathway is central to AMD pathogenesis, it is less involved in AD.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Proitsi P,Lupton MK,Dudbridge F,Tsolaki M,Hamilton G,Daniilidou M,Pritchard M,Lord K,Martin BM,Johnson J,Craig D,Todd S,McGuinness B,Hollingworth P,Harold D,Kloszewska I,Soininen H,Mecocci P,Velas B,Gill M,Lawlor

doi

10.1016/j.neurobiolaging.2011.12.036

subject

Has Abstract

pub_date

2012-08-01 00:00:00

pages

1843.e9-17

issue

8

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(11)00581-1

journal_volume

33

pub_type

杂志文章,多中心研究

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