Katarina Esih1, Katja Goričar2, Vita Dolžan2, Zvonka Rener-Primec3. 1. Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia. 2. Pharmacogenetics Laboratory, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Slovenia. 3. Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address: zvonka.rener@uni-lj.si.
Abstract
BACKGROUND: Hypoxic-ischaemic perinatal brain injury leads to the formation of reactive oxygen species (ROS) and the resultant cell and tissue damage may cause neurological sequelae such as cerebral palsy and/or epilepsy. A decrease in the capacity for defending against ROS may increase the susceptibility to cerebral palsy. The aim of this study was to investigate the impact of common functional polymorphisms in the antioxidant genes SOD2, GPX1 and CAT, associated with a decreased capacity for defending against ROS, in patients with perinatal hypoxic-ischaemic encephalopathy (HIE). METHODS: 80 patients previously diagnosed with perinatal HIE were included. Genomic DNA was isolated from buccal swabs and genotyped for SOD2 rs4880, GPX1 rs1050450 and CAT rs1001179 using real-time PCR-based methods. RESULTS: Among patients with neonatal HIE, carriers of at least one polymorphic CAT rs1001179 T allele were significantly associated with development of cerebral palsy compared to non-carriers (univariate logistic regression, p = 0.026; OR = 3.36; 95% CI = 1.16-9.76). This difference remained statistically significant after accounting for prematurity. The investigated SOD2 and GPX1 polymorphisms were not associated with cerebral palsy after perinatal HIE. CONCLUSION: CAT rs1001179 polymorphism could be used to identify children that have a higher susceptibility to cerebral palsy after perinatal HIE.
BACKGROUND:Hypoxic-ischaemic perinatal brain injury leads to the formation of reactive oxygen species (ROS) and the resultant cell and tissue damage may cause neurological sequelae such as cerebral palsy and/or epilepsy. A decrease in the capacity for defending against ROS may increase the susceptibility to cerebral palsy. The aim of this study was to investigate the impact of common functional polymorphisms in the antioxidant genes SOD2, GPX1 and CAT, associated with a decreased capacity for defending against ROS, in patients with perinatal hypoxic-ischaemic encephalopathy (HIE). METHODS: 80 patients previously diagnosed with perinatal HIE were included. Genomic DNA was isolated from buccal swabs and genotyped for SOD2rs4880, GPX1rs1050450 and CATrs1001179 using real-time PCR-based methods. RESULTS: Among patients with neonatal HIE, carriers of at least one polymorphic CATrs1001179 T allele were significantly associated with development of cerebral palsy compared to non-carriers (univariate logistic regression, p = 0.026; OR = 3.36; 95% CI = 1.16-9.76). This difference remained statistically significant after accounting for prematurity. The investigated SOD2 and GPX1 polymorphisms were not associated with cerebral palsy after perinatal HIE. CONCLUSION:CATrs1001179 polymorphism could be used to identify children that have a higher susceptibility to cerebral palsy after perinatal HIE.
Authors: Xiao Hu; Shirong Li; Desislava Met Doycheva; Lei Huang; Cameron Lenahan; Rui Liu; Juan Huang; Ling Gao; Jiping Tang; Gang Zuo; John H Zhang Journal: Oxid Med Cell Longev Date: 2020-10-07 Impact factor: 6.543