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Abstract
Purpose: The purpose of this study was to investigate the association between complement factor H Y402H polymorphism and age-related macular degeneration (AMD) development in a cohort of Turkish patients.
Methods: A total of 182 individuals, including 95 individuals with unrelated late age-related macular degeneration and 87 age-matched healthy individuals as a control group were genotyped with polymerase chain reaction followed by restriction enzyme digestion and direct sequence analysis. The statistical analysis was performed with statistical software R 2.9.2 and epicalc package.
Results: The Y402H variant in the CFH gene was found to be associated with late AMD in our study population. Genotypic frequencies were highly different between all patients and control individuals compared for the heterozygotes carrying the risk allele C (AMD patients (CT) 70.5%, control individuals (CT) 54.02%; χ2= 5.285, d.f. = 1, p = 0.02). When all AMD patients were compared with the healthy control group, TC heterozygotes showed a significantly increased risk of AMD (O.R = 2.32, CI% 1.23–4.35).
Conclusıon: This study suggests that the CFH Y402H polymorphism is associated with increased risk for both types of end-stage AMD in Turkish patients.
ACKNOWLEDGMENTS
Author note: This paper was presented in the form of a poster at the European Human Genetics Conference 2010, June 12–15, 2010, Gothenburg, Sweden.
Declaration of interest: This study was supported by Scientific Research Fund of Hacettepe University (BAP Project No: 0401601001). The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.