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Updated: May 22, 2025
Monitoring Dynamic Growth of Retinal Vessels in Oxygen-Induced Retinopathy Mouse Model
Published on: April 2, 2021
Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants
Huiqing Sun1, Zhiyi Xia2, Mingchao Li1
1Department of Neonatology, Children's Hospital affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Insights
Genetic factors contribute to retinopathy of prematurity (ROP), a leading cause of vision loss in preterm infants. This study identified specific gene polymorphisms associated with ROP development using next-generation sequencing.
Area of Science:
- Ophthalmology
- Genetics
- Neonatology
Background:
- Retinopathy of prematurity (ROP) is a significant cause of visual impairment in premature infants, characterized by abnormal retinal vessel growth.
- Genetic factors are increasingly recognized as contributors to ROP development.
Purpose of the Study:
- To investigate the association between gene polymorphisms in angiogenesis, inflammation, and oxygen-sensing pathways and the occurrence of severe ROP in preterm infants.
- To identify specific genetic variants that increase susceptibility to ROP.
Main Methods:
- A prospective cohort study involving 47 preterm infants with severe ROP and 35 control infants.
- Next-generation sequencing (NGS) combined with candidate gene analysis and data mining to assess allele frequencies and genotype distributions.
- Statistical analysis with a p-value threshold of 0.01 for hypothesis generation.
Main Results:
- 19 single-nucleotide polymorphisms (SNPs) in 11 genes were associated with ROP occurrence (p<0.001).
- 62 SNPs in 19 candidate genes related to angiogenic, inflammatory, and oxygen-sensing pathways were linked to severe ROP development (p<0.01).
- Genes identified include ZNF717, IHH, SEC22B, VEGF, EPAS-1, HIF1A, and others.
Conclusions:
- Next-generation sequencing gene analysis indicates that genetic factors play a crucial role in ROP susceptibility.
- Identifying these genetic risk factors can aid in understanding ROP pathogenesis and potentially inform preventative strategies.
Objective:
Retinopathy of prematurity (ROP) is a pathological condition characterized by abnormal proliferation of retinal vessels and it represents the primary cause of visual impairment in preterm infants. There is increasing backing for the involvement of genetic factors in the onset of ROP.
Methods:
A prospective cohort study assessed the allele frequency and genotype distribution of gene polymorphisms in angiogenesis, inflammation and oxygen-sensing pathways in preterm infants with severe ROP. The role of genetic polymorphism in ROP development was investigated using next-generation sequencing (NGS) combined with candidate genes and data mining methods.
Results:
A total of 47 confirmed severe ROP cases and gestational age, birthweight and days of oxygen therapy plus 35 similar control infants were enrolled in this study. In the initial hypothesis-generating survey, we selected a p value of 0.01 to minimize false positives while retaining true positives. Using this criterion, we identified 19 single-nucleotide polymorphisms across 11 genes that were associated with the occurrence of ROP (ZNF717, IHH, SEC22B, IGSF3, HYDIN), GGT1, FRG1, CDC27, LRRC37A3, CTAGE4 and ADAMTS7; all p<0.001). Compared with the control group, 62 single-nucleotide polymorphisms in 19 candidate genes (VEGF, EPO, EPAS-1, HIF1A, RUNX1, ESR1, CFH, PDGFB, JAK, STAT, IGF-1, IGFBP2, GPX4, TLR4, ROS1, CYP, TP53BP1, NOS3, TNF) representing angiogenic, inflammation, oxygen-sensing pathways and proliferative retinopathic diseases were found to be associated with the development of severe ROP (all p<0.01).
Conclusions:
Using NGS gene analysis suggests that genetic risk factors may play an important role in susceptibility to the development of ROP.
