Association of C3 gene polymorphism with age related macular degeneration in Gonabad region from NorthEast of Iran

Age-related macular degeneration (AMD) is the most common cause of irreversible visual impairment among elderly population worldwide. Besides age and smoking, genetic variants from several gene loci have been associated with this condition. Several polymorphisms have been implicated in the pathogenesis of this disease. rs2230199 polymorphism in C3 gene that encodes the major protein of the complement system is one of the candidate genes involved in this disease. The present research examined the role of R102G polymorphism in developing of AMD. In this study, the association of rs2230199 polymorphism in C3 gene was investigated in 51 patients from Gonabad region suffering from dry AMD with Geogrophic atrophy by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Some cases were chosen at random for confirmation of the PCR-RFLP results by direct sequencing. Also, 72 healthy age, sex matched unrelated people were included in this case-control study as controls which were selected from the same population. Investigation of the association of R102G polymorphism in C3 gene with AMD showed that there are significant differences between patients and controls in genotype and allele frequencies of this polymorphism (P= 0.000). rs2230199 polymorphism in C3 was associated with increased risk for AMD