Genetic and Environmental Influences on Retinopathy of Prematurity

OBJECTIVE The goals were to isolate and study the genetic susceptibility to retinopathy of prematurity (ROP), as well as the gene-environment interaction established in this disease. METHODS A retrospective study (2000-2014) was performed about the heritability of retinopathy of prematurity in 257 infants who were born at a gestational age of ≤ 32 weeks. The ROP was studied and treated by a single pediatric ophthalmologist. A binary logistic regression analysis was completed between the presence or absence of ROP and the predictor variables. RESULTS Data obtained from 38 monozygotic twins, 66 dizygotic twins, and 153 of simple birth were analyzed. The clinical features of the cohorts of monozygotic and dizygotic twins were not significantly different. Genetic factors represented 72.8% of the variability in the stage of ROP, environmental factors 23.08%, and random factors 4.12%. The environmental variables representing the highest risk of ROP were the number of days of tracheal intubation (p < 0.001), postnatal weight gain (p = 0.001), and development of sepsis (p = 0.0014). CONCLUSION The heritability of ROP was found to be 0.73. The environmental factors regulate and modify the expression of the genetic code.