HIF1A polymorphisms do not modify the risk of epilepsy nor cerebral palsy after neonatal hypoxic-ischemic encephalopathy

• Published in: Brain research 2021-04, Vol.1757, p.147281-147281, Article 147281
• Main Authors: Kukec, Eva, Goričar, Katja, Dolžan, Vita, Rener-Primec, Zvonka
• Format: Article
• Language: English
• Subjects: Cerebral Palsy - complications; Cerebral Palsy - genetics; Child; Drug Resistance - genetics; Drug-resistant epilepsy; Epilepsy - complications; Epilepsy - genetics; Female; Genetic Predisposition to Disease - genetics; Genotype; Humans; Hypoxia-inducible factor 1 α; Hypoxia-Inducible Factor 1, alpha Subunit - genetics; Hypoxia-Ischemia, Brain - genetics; Hypoxia-Ischemia, Brain - physiopathology; Hypoxic-ischemic encephalopathy; Infant, Newborn; Male; Neurological deficit; Oxygen homoeostasis; Polymorphism, Single Nucleotide - genetics
• ISSN: 0006-8993; 1872-6240
• DOI: 10.1016/j.brainres.2021.147281

•Clinical characteristics were the best predictor of neurological outcome after HIE.•Epilepsy after HIE was more frequent in females than in males.•All patients with HIE and rs11549465 allele developed epilepsy.•HIF1A rs11549465 was associated with epilepsy after HIE in males only.•HIF1A rs11549465 and rs11549467 were not associated with CP after HIE. Hypoxic-ischemic encephalopathy (HIE) remains the major cause of cerebral palsy and epilepsy in developed countries. Hypoxia-inducible factor 1 alpha (HIF-1α) is the key mediator of oxygen homoeostasis. The aim of this study was to investigate whether hypoxia-inducible factor 1 subunit alpha (HIF1A) functional polymorphisms are associated with the risk of epilepsy, drug-resistant epilepsy, and cerebral palsy after neonatal HIE. The study included 139 healthy controls and 229 patients with epilepsy and/or cerebral palsy, of which 95 had perinatal HIE. Genomic DNA isolated from buccal swabs or peripheral blood were genotyped for HIF1A rs11549465 and rs11549467 using PCR based methods. The investigated HIF1A polymorphisms did not influence the risk of epilepsy and its drug-resistance nor cerebral palsy after neonatal HIE (all p > 0.05). Clinical characteristics of patients were significantly associated with neurological deficits after HIE. This study found no statistically significant association of HIF1A rs11549465 and rs11549467 with the development of epilepsy and its drug-resistance, as well as cerebral palsy, after neonatal HIE.