Associations of PEDF genetic polymorphisms with retinopathy of prematurity

The current study explores the association between pigment epithelium-derived factor (PEDF) polymorphisms and risk, severity, susceptibility, and treatment response of retinopathy of prematurity (ROP). The study is designed in a prospective cohort manner, where all participating patients were recruited from two hospital branches. Three single nucleotide polymorphisms (SNPs) of PEDF with the highest allele frequency were selected. The genomic data were extracted from the patient's blood and amplified using polymerase chain reaction (PCR). A multivariate logistic regression model assessed the association between PEDF polymorphisms and ROP risk. Risk evaluation for each polymorphism was performed using an adjusted odds ratio (OR). 51 % of the 585 recruited patients developed ROP, subdivided into groups of type-2 or milder ROP and type-1 ROP. The results showed that patients with polymorphic genotype GA and the combination of genotypes GA and AA in the polymorphism of rs11658342 were associated with a higher risk of developing both type-2 or milder ROP (aOR = 1.757, p = 0.037; OR = 1.370, p = 0.013) and type-1 ROP (OR = 1.950, p = 0.013; OR = 1.358, p = 0.017). Patients with the polymorphic AA genotype in the polymorphism of rs12603825 had a higher risk of type-1 ROP (OR = 2.740, p = 0.029). The results indicate that patients with GA and AA genotypes in rs11658342 and rs12603825 of the PEDF polymorphism may serve as prognostic factors for ROP risks and severity.