Association of Complement Factor H Y402H Gene Polymorphism with Different Subtypes of Exudative Age-Related Macular Degeneration
Received 6 October 2005; accepted 8 July 2006.
Objective
Exudative age-related macular degeneration (AMD) is a common cause for a severe central visual loss. The complement system has been implicated in the pathogenesis of drusen. Recently, a complement factor H (CFH) polymorphism, which is characterized by a tyrosine (Y)-to-histidine (H) exchange at position 402 of the CFH gene, has been suggested as a major risk factor for AMD in a North American population. The aim of the present study was to investigate a hypothesized association between the CFH Y402H polymorphism and the presence of exudative AMD in a Central European population of Caucasoid descent as well as to determine the genotype distribution among different types of exudative AMD.
Design
Retrospective case–control study.
Participants
The study cohort consisted of 179 patients with exudative AMD and 163 controls.
Methods
Determination of genotypes was carried out by allele-specific digestion of polymerase chain reaction products.
Main Outcome Measures
Genotypes of CFH Y402H polymorphism.
Results
The prevalence of the CFH 402HH genotype was significantly higher in patients with exudative AMD than among controls (35.2% vs. 8.6%; P<0.001). Homozygosity for the CFH Y402H polymorphism was associated with an odds ratio of 5.78 (95% confidence interval, 3.09–10.83) for exudative AMD. Subgroup analysis revealed that the CFH 402HH genotype was significantly more prevalent in eyes with predominantly classic with no occult choroidal neovascularization (CNV) than in those with either retinal angiomatous proliferation, occult with no classic CNV, or predominantly classic with occult CNV.
Conclusion
Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Central European population.
1Department of Ophthalmology, Medical University Graz, Graz, Austria.
2Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria.
Correspondence to Anton Haas, MD, Department of Ophthalmology, Medical University Graz, Auenbruggerplatz 4, 8036 Graz, Austria.
Manuscript no. 2005-955.
The authors have no conflicts of interest regarding the article.
1 Drs Wegscheider and Weger contributed equally to the study.
ABSTRACT