The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients

• Published in: Iranian journal of ophthalmology Vol. 31; no. 3; pp. 292 - 297
• Main Authors: Roshanipour, Nasrin, Bonyadi, Morteza, Jabbarpour Bonyadi, Mohammad Hossein, Soheilian, Masoud
• Format: Journal Article
• Language: English
• Published: India Elsevier B.V 01.09.2019; Medknow Publications & Media Pvt. Ltd; Elsevier; Wolters Kluwer Medknow Publications
• Subjects: Age; Age-related macular degeneration; Atrophy; Complement factor B; Diabetic retinopathy; Disease; Enzymes; Genes; Genotype & phenotype; Inflammatory diseases; Macular degeneration; Medical imaging; Older people; PCR-RFLP; Photoreceptors; Population; Proteins; Retina; Studies; Variation; Iran; United States > US; Complement factor B; PCR-RFLP; Variation; Age-related macular degeneration
• ISSN: 2452-2325; 2452-2325
• DOI: 10.1016/j.joco.2019.07.005

To determine the possible association of rs4151667 (L9H) complement factor B (CFB) gene with age-related macular degeneration (AMD). The L9H is one of the functional variations of the CFB. CFB gene encodes the most important protein of the complement system. Two hundred sixty-six patients with AMD and 194 unrelated age/sex-matched controls were genotyped for CFB gene (rs4151667) using the polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method. All research subjects were selected from three regions of Iran (Tehran, Tabriz, and Gonabad). The results showed a significant difference between the frequency of non-TT genotype in total patients and controls [odds ratio (OR) = 0.424, P = 0.038]. The analysis for each studied region showed that in patients originating from the Gonabad population, the frequency of TT and non-TT genotypes between patients and the control group were significantly different (OR = 2.894, P = 0.046 for TT genotype and OR = 0.346, P = 0.026 for non-TT genotype). In patients originating from Tabriz population, TT and non-TT genotypes and A allele revealed considerably different frequencies between the patient and control groups (OR = 3.043, P = 0.017; OR = 0.329, P = 0.013 and OR = 0.347, P = 0.048, respectively). Analysis of patients from Tehran also showed that there was a significant difference in the frequency of TT genotype between patients and controls (OR = 2.168, P = 0.04). The results of the current study indicated a possible protective role for non-TT genotype in L9H variation CFB gene against AMD in a sample of the Iranian population. The region segregation results showed that TT genotype might be a risk factor for susceptibility to AMD.