Association of Complement Factor H (CFH) Y402H Gene Polymorphism and Serum CFH with Risk of Age Related Macular Degeneration in Egyptian Patients | ||
| The Medical Journal of Cairo University | ||
| Article 61, Volume 87, March, March 2019, Pages 497-503 PDF (432.37 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/mjcu.2019.52412 | ||
| Authors | ||
| MARIANNE S.M. ISSAC, M.D.; NAHLA A. FAWZY, M.D.; RIHAM A. El-ESSAWY, M.D.; MOHAMED A. ZAYED, M.D. | ||
| The Departments of Clinical & Chemical Pathology and Ophthalmology, Faculty of Medicine, Cairo University | ||
| Abstract | ||
| 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. | ||
| Keywords | ||
| Age related macular degeneration; Complement Factor H; Egyptian; Y402H | ||
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