Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants.

IF 1.8 3区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Molecular Vision Pub Date : 2025-03-01 eCollection Date: 2025-01-01

Huiqing Sun, Zhiyi Xia, Mingchao Li, Zengyuan Yu, Zhangsheng Wang, Shan Xing, Ping Cheng, Hongbo Zhang, Lifeng Li

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Abstract

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.

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来源期刊

Molecular Vision 生物-生化与分子生物学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.