CARD8 and IL1B Polymorphisms Influence MRI Brain Patterns in Newborns with Hypoxic-Ischemic Encephalopathy Treated with Hypothermia

Abstract

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 <i>NLRP3</i> rs35829419, <i>CARD8</i> rs2043211, <i>IL1B</i> rs16944, <i>IL1B</i> rs1143623, <i>IL1B</i> rs1071676, <i>TNF</i> rs1800629, <i>CAT</i> rs1001179, <i>SOD2</i> rs4880, and <i>GPX1</i> rs1050450. Polymorphism in <i>CARD8</i> was found to be protective against HI brain injury detected by MRI overall findings. Polymorphisms in <i>IL1B</i> 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.