Purpose: To explore the relationship between single-nucleotide polymorphisms (SNPs) in complement factor I (CFI), interleukin-8 (IL-8), transferrin (TF), and transferrin receptor 2 (TFR2) and age-related macular degeneration (AMD) in a northeastern Chinese population. Methods: A total of 400 AMD patients (200 wet AMD and 200 dry AMD) and 200 controls were enrolled in this study, and genetic polymorphisms in the above genes were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The χ2 test was used to compare differences in allele frequencies in each group, and the associations of genotype frequencies with AMD were determined by multivariate logistic regression analysis. Results: Our research shows that CFI rs141853578, IL-8 rs2227543, TF rs8177178 and TFR2 rs2075674 are associated with the incidence of AMD. In wet AMD, allele T of CFI rs141853578, IL-8 rs2227543 and TFR2 rs2075674 may be a risk factor. Allele A of TF rs8177178 may increase the risk of dry AMD. Conclusions: CFI rs141853578, IL-8 rs2227543, TF rs8177178 and TFR2 rs2075674 genetic polymorphisms are associated with the occurrence of AMD in a northeastern Chinese population, especially wet AMD.
Keywords: Age-related macular degeneration; CFI; IL-8; TF; TFR2; single-nucleotide polymorphism.