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

Abstract

PurposeHypoxic-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. MethodsThe 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. ResultsThe 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. ConclusionThis 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.