Polymorphisms in PEDF linked with the susceptibility to age-related macular degeneration: A case–control study

To study the relationship between pigment epithelium-derived factor (PEDF) rs1136287, rs1894286 polymorphisms and the risk of age-related macular degeneration (AMD) in northern Chinese populations. The study was carried out on case–control methods. Ninety-six patients with AMD and 98 health controls were recruited who were matched with the former by age and gender, rs1136287 and rs1894286 were genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). Hardy–Weinberg equilibrium (HWE) was also checked by χ(2) test. The distribution frequencies of genotype, allele, and haplotype were calculated by direct counting method. The genotype, allele, and haplotype distribution differences between the case and control groups were analyzed by chi-square test, and odds ratio (OR) and 95% confidence interval (CI) was used to express the relative risk of AMD in northern Chinese populations. The linkage disequilibrium (LD) and haplotype analyses were conducted with Haploview software. The genotype and allele distribution frequencies in rs1136287 were obviously between in cases and controls (P < .05). TT genotype might lead to 3.24 times risk of AMD occurrence compared with CC genotype (OR = 3.24, 95% CI = 1.26–8.32), and C allele also played an increased risk role in the attack of AMD (OR = 1.58, 95% CI = 1.06–2.38). The T–C haplotype frequency of rs1136287-rs1894286 in PEDF were significantly correlated to the increased susceptibility to AMD (OR = 1.57, 95% CI = 1.02–2.40). The rs1136287 polymorphism in PEDF may be related to the occurrence risk of AMD. Additionally, a haplotype is also a non-ignorable risk factor.