Association of Complement Factor H (CFH) Y402H Gene Polymorphism and Serum CFH with Risk of Age Related Macular Degeneration in Egyptian Patients

Abstract
Background: Age related Macular Degeneration (AMD) is stated as the most common cause of irreversible blindness among aging populations. It has been reported that both Complement Factor H (CFH) Y402H polymorphism and serum CFH concentration are linked to AMD.
Aim of Study: To determine whether Y402H polymorphism and serum level of CFH are associated with AMD in the Egyptian population.
Material and Methods: Eighty subjects were recruited; 40 AMD patients and 40 matched healthy individuals as control. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) was performed for the analysis of CFH Y402H gene polymorphism. Serum CFH concentration was measured using Enzyme Linked-Imm-unosorbent Assay (ELISA).
Results: Susceptibility to AMD in Egyptian population was not associated with CFH Y402H polymorphism and the presence of C allele is not considered risky; Odds Ratio (OR): 0.545, 95% CI (0.291-1.022). No significant association between CFH genotypes and AMD. Serum CFH concentration showed no statistically significant difference between cases & controls (p=0.706). In controls, there was a statistically significant decrease in serum CFH level in CC genotype compared to both CT genotype (p=0.038) and TT genotype (p=0.007), while in AMD group, no statistically significant difference in serum CFH concentration between different genotypes.
Conclusion: CFH Y402H polymorphism does not confer risk of AMD in Egyptian patients. Further larger scaled studies are needed to confirm CFH role in AMD.