Age-related macular degeneration (AMD) is the most common cause of irreversible visual loss in the elderly population worldwide. Numerous genetic studies have suggested that Complement Factor H (CFH) Y402H polymorphism might be associated with AMD, in different populations with contradictory findings; however, the Egyptian population was understudied.

The aim of this study is to examine whether there is an association between CFH Y402H polymorphism, serum CFH concentration and susceptibility to AMD in the Egyptian population, as well as, the association of CFH genotypes and AMD phenotypes .

Materials & Methods:

Eighty subjects were recruited in this study; 40 AMD patients and 40 age and gender matched healthy individuals assigned to the control group. Polymerase chain reaction-restriction Fragment length polymorphism (PCR – RFLP) was performed for the analysis of CFH Y402H gene polymorphism, while, serum CFH concentration was measured using enzyme linked-immunosorbent assay (ELISA).


No association between CFH Y402H polymorphism and susceptibility to AMD in the Egyptian population. The presence of C allele is considered not risky; odds ratio (OR) for the presence of C allele is 0.545, 95% CI (0.291-1.022). No significant association between CFH genotypes and types of AMD. No statistical significant difference in serum CFH concentration between cases and 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. No statisticaly significant difference was found on comparing serum CFH level in the AMD group when stratified according to different risk factors (smoking, diabetes, hypertension, cataract and previous cataract surgery).


CFH Y402H polymorphism does not confer risk of AMD in Egyptian patients. Further larger scaled studies are needed to confirm CFH role in AMD.

Contact Details:

Cell Phone: +201001117295