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Human Molecular Genetics Advance Access published online on January 18, 2008
Human Molecular Genetics, doi:10.1093/hmg/ddn018
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Gene-environment interaction in progression of AMD - the CFH gene, smoking and exposure to chronic infection

Paul N. Baird1,*, Luba D. Robman1, Andrea J. Richardson1, Peter N. Dimitrov1, Gabriella Tikellis1, Catherine A. McCarty2,1 and Robyn H. Guymer1

1 Centre for Eye Research Australia, University of Melbourne, 32 Gisborne Street, East Melbourne, Victoria, 3002, Australia 2 Marshfield Clinic Research Foundation, Marshfield, Wisconsin, 54449 USA

* Correspondence and reprint requests to Paul N. Baird, PhD, Centre for Eye Research Australia, 32 Gisborne Street, East Melbourne, Victoria 3002, Australia Tel: +61 3 9929 8613; Fax: +61 3 9662 9916; Email: pnb{at}unimelb.edu.au

Received August 19, 2007; Revised January 10, 2008; Accepted January 10, 2008

A number of risk factors including the complement factor H (CFH) gene, smoking as well as C. pneumonia have been associated with age related macular degeneration (AMD). However, the mechanisms underlying how these risk factors might be involved in disease progression and disease aetiology is poorly understood. A cohort series of 233 individuals followed for AMD progression over a mean period of 7 years underwent a full eye examination, blood was taken for DNA and antibody titre, and individuals completed a standard medical and general questionnaire. Y402H variants of the CFH gene were assessed with disease progression as well as examination of interaction between Y402H variants and smoking and Y402H variants and the pathogen C. pneumonia. The CC risk genotype of Y402H was significantly associated with increased AMD progression (odds ratio (OR) 2.43, 95% confidence interval (CI) 1.07, 5.49) as was smoking (OR=2.28 95% CI 1.26-4.12.). However, the risk of progression was greatly increased to almost 12 fold (OR 11.8, 95% CI 2.1-65.8) when, in addition to having the C risk allele, subjects also presented with the upper tertile of antibodies to the bacterial pathogen C. pneumoniae compared to those with the T allele of Y402H and the lowest antibody tertile. This demonstrates for the first time the existence of a gene environment-interaction between pathogenic load of C. pneumoniae and the CFH gene in the aetiology of AMD.


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