Genetic susceptibility for retinopathy of prematurity and its associated comorbidities

• Published in: Pediatric research Vol. 96; no. 5; pp. 1325 - 1331
• Main Authors: Gimenez, Lucas G., Gili, Juan A., Elias, Darío E., Sagula, Rubén, Comas, Belén, Santos, María R., Campaña, Hebe, Poletta, Fernando A., Heisecke, Silvina L., Ratowiecki, Julia, Cosentino, Viviana R., Uranga, Rocío, Saleme, César, Negri, Mercedes, Rittler, Mónica, Zapata Barrios, Jorge, Krupitzki, Hugo B., López Camelo, Jorge S.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 12-02-2024; Nature Publishing Group
• Subjects: Angiogenesis; Medicine; Medicine & Public Health; Newborn babies; Pediatric Surgery; Pediatrics; Population Study Article; Premature babies; Regression analysis; Risk factors
• DOI: 10.1038/s41390-024-03068-9
• EISSN: 1530-0447
• ISSN: 0031-3998; 1530-0447

Background
Retinopathy of prematurity (ROP) is one of the leading cause of child blindness. Preterm newborns of very low gestational age (GA) and very low birth weight are at the greatest risk. Our objective was to evaluate the role of genetic variants associated with ROP risk and its comorbidities in an Argentinian sample of premature infants.
Methods
A sample of 437 preterm infants <33 weeks GA, born at a maternity hospital in Tucumán, Argentina, 2005–2010, was analyzed. Environmental factors, perinatal outcomes, and fourteen single nucleotide polymorphisms associated with ROP were evaluated, comparing ROP with non-ROP newborns. A lasso logistic regression was performed to select variables; then, a conditional logistic regression was used to identify ROP maternal and perinatal risk factors adjusting by maternal and gestational ages, respectively.
Results
ROP maternal risk factors were alcohol intake, periodontal infections, and severe stress. Respiratory distress, sepsis, and intracranial hemorrhage were the ROP perinatal risk factors. Markers
rs186085
of EPAS1 and
rs427832
of AGTR1 were significantly associated with ROP newborns.
Conclusion
We identified three maternal and three perinatal risk factors associated with ROP. Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP.
Impact
Genetic and environmental risk factors associated with ROP and its comorbidities are evaluated in a Latin American population.
Genes EPAS1 and AGTR1, involved in angiogenesis and vascularization, were identified to be of risk for ROP.
Three maternal and three perinatal risk factors associated with ROP were also identified.
A matrix of significant relationships among genetic markers and comorbidities is presented.
Reported data may help develop more effective preventive measures for ROP in the Latin American region.