Esih Katarina, Goričar Katja, Rener-Primec Zvonka, Dolžan Vita, Soltirovska-Šalamon Aneta
Division of Paediatrics, Department of Child, Adolescent and Developmental Neurology, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Pharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Antioxidants (Basel). 2021 Jan 12;10(1):96. doi: 10.3390/antiox10010096.
Inflammation and oxidative stress are recognized as important contributors of brain injury in newborns due to a perinatal hypoxic-ischemic (HI) insult. Genetic variability in these pathways could influence the response to HI and the outcome of brain injury. The aim of our study was to evaluate the impact of common single-nucleotide polymorphisms in the genes involved in inflammation and response to oxidative stress on brain injury in newborns after perinatal HI insult based on the severity and pattern of magnetic resonance imaging (MRI) findings. The DNA of 44 subjects was isolated from buccal swabs. Genotyping was performed for rs35829419, rs2043211, rs16944, rs1143623, rs1071676, rs1800629, rs1001179, rs4880, and rs1050450. Polymorphism in was found to be protective against HI brain injury detected by MRI overall findings. Polymorphisms in were associated with posterior limb of internal capsule, basal ganglia, and white matter brain patterns determined by MRI. Our results suggest a possible association between genetic variability in inflammation- and antioxidant-related pathways and the severity of brain injury after HI insult in newborns.
炎症和氧化应激被认为是围产期缺氧缺血（HI）损伤导致新生儿脑损伤的重要因素。这些途径中的基因变异可能会影响对HI的反应以及脑损伤的结果。我们研究的目的是基于磁共振成像（MRI）结果的严重程度和模式，评估参与炎症和氧化应激反应的基因中常见单核苷酸多态性对围产期HI损伤后新生儿脑损伤的影响。从44名受试者的颊拭子中分离出DNA。对rs35829419、rs2043211、rs16944、rs1143623、rs1071676、rs1800629、rs1001179、rs4880和rs1050450进行基因分型。发现[具体基因]中的多态性对MRI总体结果检测到的HI脑损伤具有保护作用。[具体基因]中的多态性与MRI确定的内囊后肢、基底神经节和白质脑模式相关。我们的结果表明，炎症和抗氧化相关途径的基因变异与新生儿HI损伤后脑损伤的严重程度之间可能存在关联。
