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Title: Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration
Authors: Ammarin Thakkinstian
Pearline Han
Mark McEvoy
Wayne Smith
Josephine Hoh
Kristinn Magnusson
Kang Zhang
John Attia
University of Newcastle, Australia
University of Newcastle Faculty of Medicine and Health Sciences
Mahidol University
Yale University School of Medicine
deCODE genetics
University of Utah Health
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 15-Sep-2006
Citation: Human Molecular Genetics. Vol.15, No.18 (2006), 2784-2790
Abstract: Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world and complement factor H (CFH) polymorphism has been found to associated with the AMD. We performed a meta-analysis to estimate the magnitude of the gene effect and the possible mode of action. A meta-analysis of eight studies assessing association between the CFH Y402H polymorphism and AMD was performed. Data extraction and study quality assessment were performed in duplicate, and heterogeneity and publication bias were explored. There was strong evidence for association between CFH and AMD, with those having CC and TC genotypes being roughly six and 2.5 times more likely to have AMD than patients with TT genotype, suggesting a co-dominant, multiplicative genetic model. The population attributable risk for the CC/TC genotype is 58.9%, i.e. the CFH polymorphism is involved in over half of all AMD. This meta-analysis summarizes the strong evidence for an association between CFH and AMD and indicates a multiplicative model with each C allele increasing the odds of AMD by ∼2.5-fold. This result is at least as important at the population level as ApoE4 and Alzheimer's disease, playing a role in almost 60% of AMD at the population level. © Copyright 2006 Oxford University Press.
ISSN: 14602083
Appears in Collections:Scopus 2006-2010

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