Pavlov Vesna, Papazovska Cherepnalkovski Anet, Marcic Marino, Marcic Ljiljana, Kuzmanic Samija Radenka
Department of Neonatology, Clinic for Gynecology and Obstetrics, Clinical Hospital Center Split, 21000 Split, Croatia.
University Department of Health Studies, University of Split, 21000 Split, Croatia.
Biomedicines. 2023 Oct 15;11(10):2795. doi: 10.3390/biomedicines11102795.
The aim of this study is to investigate the frequency of six tag SNPs (single nucleotide polymorphisms) within specific genes (, , , , , , , and ) (), (), (), (), () (), (). The study also investigates their association with the development and severity of HIE. The genes , , and code for proteins involved in blood clotting. is a gene that plays a significant role in processing amino acids, the fundamental building blocks of proteins. , , , and are genes involved in the regulation of various physiological processes, such as the relaxation of smooth muscle, regulation of central blood pressure, vasodilatation, and synaptic plasticity. Changes in these genes may be associated with brain injury. This retrospective study included 279 participants, of which 132 participants had Hypoxic-Ischemic Encephalopathy (HIE) and 147 subjects were in the control group. Our study found that certain genetic variants in the and polymorphisms were associated with hypoxic-ischemic encephalopathy (HIE) and the findings of the magnetic resonance imaging. There was a correlation between Apgar scores and the degree of damage according to the ultrasound findings. These results highlight the complex relationship between genetic factors, clinical parameters, and the severity of HIE.
本研究的目的是调查特定基因（、、、、、、和）内六个标签单核苷酸多态性（SNPs）的频率（）、（）、（）、（）、（）（）、（）。该研究还调查了它们与新生儿缺氧缺血性脑病（HIE）的发生和严重程度之间的关联。基因、和编码参与血液凝固的蛋白质。是一个在处理氨基酸（蛋白质的基本组成部分）方面起重要作用的基因。、、、和是参与调节各种生理过程的基因，如平滑肌舒张、中心血压调节、血管舒张和突触可塑性。这些基因的变化可能与脑损伤有关。这项回顾性研究包括279名参与者，其中132名患有缺氧缺血性脑病（HIE），147名受试者为对照组。我们的研究发现，和多态性中的某些基因变异与缺氧缺血性脑病（HIE）以及磁共振成像结果相关。根据超声检查结果，阿氏评分与损伤程度之间存在相关性。这些结果突出了遗传因素、临床参数与HIE严重程度之间的复杂关系。
