Indian J Ophthalmol. 2026 Feb 11. doi: 10.4103/IJO.IJO_897_25. Online ahead of print.
ABSTRACT
PURPOSE: The purpose of this study is to analyze the genetic polymorphisms of specific genes- VEGF +936T/C, ACE ID, TNF 308G/A, and GSTP1-on the progression or regression of retinopathy of prematurity (ROP) in premature infants. The goal is to determine how these genetic variations influence the development of ROP and assess their potential as biomarkers for the disease.
METHODS: This study is a genetic association study focused on identifying the relationship between genetic polymorphisms and ROP progression in a cohort of premature infants. The study involves genotyping 12 polymorphisms in four genes (VEGF, ACE, TNF, and GSTP1) in a sample of 100 premature infants diagnosed with ROP. A total of 100 premature infants diagnosed with ROP, without any other ophthalmologic disease, were included in the study. Twelve genetic polymorphisms in the genes VEGF (+936T/C), ACE (Insertion/ Deletion), TNF (308G/A), and GSTP1 were genotyped using standard molecular techniques. The frequencies of these polymorphisms in the ROP-positive group were compared, and their association with ROP progression or regression was evaluated using statistical tests such as Chi-square or Fisher’s exact test. P values less than 0.05 were considered statistically significant.
RESULTS: Out of the 12 polymorphisms studied, only two showed statistically significant associations with ROP progression or regression.The ACE insertion allele was associated with ROP regression and VEGF +936T/C polymorphism was found to increase the risk of ROP, with the C allele being a potential risk factor for the progression of the disease. The other polymorphisms in the TNF 308G/A and GSTP1 genes did not show a statistically significant influence on ROP progression or regression.
CONCLUSION: The ACE ID polymorphism appears to provide a protective effect against the development of ROP. Premature infants with the insertion allele of the ACE gene may be at lower risk for ROP progression,suggesting a potential role for ACE gene variation in influencing disease outcomes. The VEGF +936T/C polymorphism seems to increase the risk of ROP development, with the C allele possibly contributing to the progression of the disease.This study emphasizes the potential genetic factors involved in ROP, which could pave the way for personalized approaches in monitoring and managing ROP in premature infants,particularly in resource-limited settings. Further research with larger sample sizes is needed to confirm these findings and explore the underlying mechanisms of these genetic polymorphisms in ROP.
PMID:41669786 | DOI:10.4103/IJO.IJO_897_25
