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

Proitsi, Petroula, Lupton, Michelle K., Dudbridge, Frank, Tsolaki, Magda, Hamilton, Gillian, Daniilidou, Makrina, Pritchard, Megan, Lord, Kathryn, Martin, Belinda M., Craig, David, Todd, Stephen, McGuinness, Bernadette, Hollingworth, Paul, Harold, Denise, Kloszewska, Iwona, Soininen, Hilkka, Mecocci, Patrizia, Velas, Bruno, Gill, Michael, Lawlor, Brian, Rubinsztein, David C., Brayne, Carol, Passmore, Peter A., Williams, Julie, Lovestone, Simon and Powell, John F. 2012. Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation [Abstract]. Neurobiology of Aging 33 (8) , 1843.e9-1843.e17. 10.1016/j.neurobiolaging.2011.12.036

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Systems Immunity Research Institute (SIURI)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords: Alzheimer's disease (AD), age-related macular degeneration (AMD), complement pathway, single nucleotide polymorphisms (SNPs), genetic models
Publisher: Elsevier
ISSN: 0197-4580
Last Modified: 04 Jun 2017 04:34

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