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

Pigment epithelium-derived factor (PEDF) strongly inhibits angiogenesis, and plays an important role in retinoblastoma cells. In this study we detect the association of PEDF gene polymorphisms (rs1136287 and rs12150053) and age-related macular degeneration (AMD) risk.

This is a case-control study including 118 AMD patients and 121 healthy controls. PEDF 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 PEDF 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.

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 (P<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 (P=0.044, OR=1.499, 95% CI=1.009-2.226).

In this study, there was no obvious association between PEDF gene rs1136287 polymorphism and AMD susceptibility, and rs12150053T might act as a susceptible allele in the occurrence of AMD.