Potential role of eNOS and EDN-1 gene polymorphisms in the development and progression of retinopathy of prematurity

Abstract

Abstract The aim of this study was to investigate the association between selected polymorphisms of nitric oxide synthetase (eNOS) and endothelin-1 (EDN-1) with the occurrence and progression of retinopathy of prematurity (ROP). A prospective study was conducted on 90 preterm infants (44 female), comparing 39 cases with ROP and 51 controls without ROP. Patients who developed ROP were further divided into two subgroups—those with spontaneous regression of the disease and those with ROP requiring treatment. We found that preterm infants with TT genotype eNOS 894G > T had a 12.8-fold higher risk of developing ROP requiring treatment (p = 0.02). Our results showed that allele T of eNOS894G > T polymorphism was significantly more prevalent in ROP patients requiring treatment (p = 0.029). We also investigated preterm infants with TC genotype eNOS − 786 T > C and found an 8.8-fold higher risk developing of ROP requiring treatment (p = 0.021). Our results didn’t show any association between EDN-1 5665G > T polymorphism and ROP development. The eNOS polymorphisms appears to influence incidence of ROP requiring treatment in preterm infants. Future research on single nucleotide polymorphisms may provide important information about the pathogenetic mechanisms underlying the development of ROP.

Keywords

• Prematurity
• Retinopathy of prematurity
• Nitric oxide synthetase
• Endothelin
• Genetic polymorphisms