Human Molecular Genetics Advance Access published online on August 11, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl220
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1 Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle, NSW, 2300 Australia; Clinical Epidemiology Unit, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 10400 Thailand
* To whom correspondence should be addressed. 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 8 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 6 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
Received April 23, 2006
Accepted August 3, 2006
Article
Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration
Ammarin Thakkinstian 1 *, Pearline Han 2, Mark McEvoy 3, Wayne Smith 3, Josephine Hoh 4, Kristinn Magnusson 5, Kang Zhang 6, and John Attia 3
2 Clinical Pharmacology Unit, School of Medical Practice & Population Health , University of Newcastle, Newcastle, NSW, Australia
3 Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle, NSW, Australia
4 Department of Epidemiology and Public Health, Yale University School of Medicine, USA
5 deCODE Genetics Inc., Reykjavik, Iceland
6 Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, USA
Ammarin Thakkinstian, E-mail: Thakkinstian{at}newcastle.edu.au or raatk@mahidol.ac.th
Abstract 
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.
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