Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

• Published in: Ophthalmic genetics Vol. 33; no. 3; pp. 144 - 149
• Main Authors: Yücel, Didem, Y lmaz, Murat, Durukan, Ali Hakan, Özgül, R za Köksal
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare 01.09.2012; Taylor & Francis
• Subjects: Age-related macular degeneration; Aged; association; Case-Control Studies; complement factor H; Complement Factor H - genetics; Female; Fluorescein Angiography; Genotype; Geographic Atrophy - genetics; Humans; Male; Odds Ratio; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Restriction Mapping; Risk Factors; Turkey; Turkish patients; Wet Macular Degeneration - genetics; Y402H polymorphism; Turkey
• ISSN: 1381-6810; 1744-5094
• DOI: 10.3109/13816810.2012.660225

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). Conclus on: This study suggests that the CFH Y402H polymorphism is associated with increased risk for both types of end-stage AMD in Turkish patients.