ArticleInvestigative ophthalmology & visual science2014
Genetic variants associated with severe retinopathy of prematurity in extremely low birth weight infants.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Guideline
- Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes.Scientific reports · 2021Trial
- Very Preterm Infant Retinal Microanatomy at 36 Weeks' Postmenstrual Age and 2-Year Neurodevelopment.JAMA ophthalmology · 2026Article
- Retinopathy of Prematurity in Very Low Birthweight Neonates of Gestation Less Than 32 weeks in Malaysia.Indian journal of pediatrics · 2025Article
- Review of Precision Medicine and Diagnosis of Neonatal Illness.Diagnostics (Basel, Switzerland) · 2025Review
- Influence of Functional Variations in Genes of Neurotrophins and Neurotransmitter Systems on the Development of Retinopathy of Prematurity.International journal of molecular sciences · 2025Article
- Genetic susceptibility for retinopathy of prematurity and its associated comorbidities.Pediatric research · 2024Article
- Retinopathy of Prematurity in Eight Portuguese Neonatal Intensive Care Units: Incidence, Risk Factors, and Progression-A Prospective Multicenter Study.Children (Basel, Switzerland) · 2024Article
- Genome-wide association identifies novel ROP risk loci in a multiethnic cohort.Communications biology · 2024Article
- Complete blood count parameters as biomarkers of retinopathy of prematurity: a Portuguese multicenter study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Observational
- Pathophysiology of Retinopathy of Prematurity.Annual review of vision science · 2023Review
- Precision medicine via the integration of phenotype-genotype information in neonatal genome project.Fundamental research · 2022Review
- Retinopathy of prematurity: contribution of inflammatory and genetic factors.Molecular and cellular biochemistry · 2022Review
- [Guidelines for ophthalmological screening of premature infants in Germany (S2k level, AWMF guidelines register no. 024/010, March 2020) : Joint recommendation of the German Ophthalmological Society (DOG), Retinological Society (RG), Professional Association of Ophthalmologists in Germany e. V. (BVA), German Society of Paediatrics and Adolescent Medicine (DGKJ), Professional Association of Pediatricians (BVKJ), Federal Association "The Premature Child" , Society for Neonatology and Paediatric Intensive Care Medicine (GNPI)].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2021Review
- Article
- Decreased Platelet Counts and Serum Levels of VEGF-A, PDGF-BB, and BDNF in Extremely Preterm Infants Developing Severe ROP.Neonatology · 2021Article
- Targeted Blood Metabolomic Study on Retinopathy of Prematurity.Investigative ophthalmology & visual science · 2020Article
- Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING).BMJ paediatrics open · 2020Article
- Placental CpG Methylation of Inflammation, Angiogenic, and Neurotrophic Genes and Retinopathy of Prematurity.Investigative ophthalmology & visual science · 2019Article
- Genetic variants associated with patent ductus arteriosus in extremely preterm infants.Journal of perinatology : official journal of the California Perinatal Association · 2019Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
purposeTo determine genetic variants associated with severe retinopathy of prematurity (ROP) in a candidate gene cohort study of US preterm infants.
methodsPreterm infants in the discovery cohort were enrolled through the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network, and those in the replication cohort were from the University of Iowa. All infants were phenotyped for ROP severity. Because of differences in the durations of enrollment between cohorts, severe ROP was defined as threshold disease in the discovery cohort and as threshold disease or type 1 ROP in the replication cohort. Whole genome amplified DNA from stored blood spot samples from the Neonatal Research Network biorepository was genotyped using an Illumina GoldenGate platform for candidate gene single nucleotide polymorphisms (SNPs) involving angiogenic, developmental, inflammatory, and oxidative pathways. Three analyses were performed to determine significant epidemiologic variables and SNPs associated with levels of ROP severity. Analyses controlled for multiple comparisons, ancestral eigenvalues, family relatedness, and significant epidemiologic variables. Single nucleotide polymorphisms significantly associated with ROP severity from the discovery cohort were analyzed in the replication cohort and in meta-analysis.
resultsEight hundred seventeen infants in the discovery cohort and 543 in the replication cohort were analyzed. Severe ROP occurred in 126 infants in the discovery and in 14 in the replication cohort. In both cohorts, ventilation days and seizure occurrence were associated with severe ROP. After controlling for significant factors and multiple comparisons, two intronic SNPs in the gene BDNF (rs7934165 and rs2049046, P < 3.1 × 10(-5)) were associated with severe ROP in the discovery cohort and were not associated with severe ROP in the replication cohort. However, when the cohorts were analyzed together in an exploratory meta-analysis, rs7934165 increased in associated significance with severe ROP (P = 2.9 × 10(-7)).
conclusionsVariants in BDNF encoding brain-derived neurotrophic factor were associated with severe ROP in a large candidate gene study of infants with threshold ROP.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.