Association between PEDF gene polymorphisms and the risk of age-related macular degeneration

摘要

Objective: Pigment epithelium-derived factor (PEDF) strongly inhibits angiogenesis, and plays an important role in retinoblastoma cells. In this study we detect the association of gene polymorphisms (rs1136287 and rs12150053) and age-related macular degeneration (AMD) risk. Methods: This is a case-control study including 118 AMD patients and 121 healthy controls. gene polymorphisms were genotyped by TaqMan method. Hardy-Weinberg equilibrium (HWE) was used to detect the representativeness of the cases and controls. Differences of genotype and allele distributions of polymorphisms were calculated by Chi-square test. Odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were used to present the relative risk of AMD. Results: Genotype and allele distributions in controls were in accordance with HWE. Genotype and allele distributions of rs1136287 had no significant association with the susceptibility of AMD under five contrast models ( <0.05). CC genotype and C allele of rs12150053 were higher in cases than that in controls, and rs12150053 was obviously related to the risk of AMD under T vs. C model ( =0.044, OR=1.499, 95% CI=1.009-2.226). Conclusion: In this study, there was no obvious association between gene rs1136287 polymorphism and AMD susceptibility, and rs12150053T might act as a susceptible allele in the occurrence of AMD.