Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland.
Department of Ophthalmology, Poznan University of Medical Sciences, Szamarzewskiego 84, 60-569 Poznan, Poland.
Genes (Basel). 2023 Apr 26;14(5):975. doi: 10.3390/genes14050975.
Excessive oxidative stress resulting from hyperoxia or hypoxia is a recognized risk factor for diseases of prematurity. However, the role of the hypoxia-related pathway in the development of these diseases has not been well studied. Therefore, this study aimed to investigate the association between four functional single nucleotide polymorphisms (SNPs) in the hypoxia-related pathway, and the development of complications of prematurity in relation to perinatal hypoxia. A total of 334 newborns born before or on the 32nd week of gestation were included in the study. The SNPs studied were rs11549465 and rs11549467, rs2010963, and rs833061. The findings suggest that the rs11549465T allele is an independent protective factor against necrotizing enterocolitis (NEC), but may increase the risk of diffuse white matter injury (DWMI) in newborns exposed to hypoxia at birth and long-term oxygen supplementation. In addition, the rs11549467A allele was found to be an independent protective factor against respiratory distress syndrome (RDS). No significant associations with SNPs were observed. These findings indicate the potential involvement of the hypoxia-inducible pathway in the pathogenesis of complications of prematurity. Studies with larger sample sizes are needed to confirm these results and explore their clinical implications.
过度的氧化应激是由高氧或低氧引起的，这是早产儿疾病的一个公认的危险因素。然而，低氧相关途径在这些疾病发展中的作用尚未得到很好的研究。因此，本研究旨在探讨低氧相关途径中四个功能性单核苷酸多态性（SNP）与围产期低氧相关的早产儿并发症的发展之间的关联。本研究共纳入 334 名在 32 周妊娠前或妊娠 32 周时出生的新生儿。研究的 SNP 是 rs11549465 和 rs11549467、rs2010963 和 rs833061。研究结果表明，rs11549465T 等位基因是坏死性小肠结肠炎（NEC）的独立保护因子，但可能增加出生时暴露于低氧和长期氧补充的新生儿弥漫性白质损伤（DWMI）的风险。此外，rs11549467A 等位基因被发现是呼吸窘迫综合征（RDS）的独立保护因子。未观察到与 SNP 的显著关联。这些发现表明，低氧诱导途径可能参与了早产儿并发症的发病机制。需要更大样本量的研究来证实这些结果并探讨其临床意义。
