The association between antioxidant enzyme polymorphisms and cerebral palsy after perinatal hypoxic-ischaemic encephalopathy

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.