Purpose: To investigate polymorphisms in the pigment epithelium-derived factor (PEDF) gene in a Chinese cohort with exudative age-related macular degeneration (AMD).
Methods: Two common single nucleotide polymorphisms (SNPs), Met72Thr (rs1136287) and -5736T>C (rs12150053), were genotyped, and four tagSNPs (tSNPs) were detected statistically in the PEDF gene of 168 exudative AMD patients and 230 age- and sex-matched control participants. Genetic analyses for additive, dominant, and recessive models were performed on all the available genotype data. All the possible haplotypes of these six SNPs were detected.
Results: No association was found between the patients and the control participants in the allele frequencies for any individual SNP. There was evidence to suggest that heterozygotes for rs1136287 (C/T) exerted a protective effect against exudative AMD (additive model, OR 0.59, CI 0.36-0.95, p = 0.03), but none of the p-values in the other genotype groups were statistically significant. Likewise, haplotype analyses did not provide any evidence for an association between SNPs in the PEDF gene and the risk of exudative AMD in this Chinese cohort (p > 0.05).
Conclusions: Detection of SNPs in the PEDF gene was not found to be significantly associated with exudative AMD in the Chinese cohort. Further studies of comprehensive PEDF gene variations are required to characterize the susceptibility of PEDF gene in the pathogenesis of AMD.