20.500.12556/RUL-136339 Genetic polymorphisms, gene–gene interactions and neurologic sequelae at two years follow-up in newborns with hypoxic-ischemic encephalopathy treated with hypothermia Inflammation and oxidative stress after hypoxic-ischemic brain injury may be modified by genetic variability in addition to therapeutic hypothermia. The aim of our study was to evaluate the association between the polymorphisms in genes of antioxidant and inflammatory pathways in newborns treated with therapeutic hypothermia and the development of epilepsy or CP at two years follow-up. The DNA of 55 subjects was isolated from buccal swabs. Genotyping using competitive allele-specific PCR was performed for polymorphisms in antioxidant (SOD2 rs4880, CAT rs1001179, GPX1 rs1050450) and inflammatory (NLRP3 rs35829419, CARD8 rs2043211, IL1B rs1143623, IL1B rs16944, IL1B rs10716 76, TNF rs1800629) pathways. Polymorphic CARD8 rs2043211 T allele was less frequent in patients with epilepsy, but the association was not statistically significant. The interaction between CARD8 rs2043211 and IL1B rs16944 was associated with epilepsy after HIE: CARD8 rs2043211 was associated with lower epilepsy risk, but only in carriers of two normal IL1B rs16944 alleles (OR$_{adj}$ = 0.03 95% CI = 0.00–0.55; p$_{adj}$ = 0.019). Additionally, IL1B rs16944 was associated with higher epilepsy risk only in carriers of at least one polymorphic CARD8 rs2043211 (OR$_{adj}$ = 13.33 95% CI = 1.07–166.37; p$_{adj}$ = 0.044). Our results suggest that gene–gene interaction in inflammation pathways might contribute to the severity of brain injury in newborns with HIE treated with therapeutic hypothermia. inflammation oxidative stress polymorphism hypoxic-ischemic encephalopathy newborn pediatrija novorojenčki oksidativni stres hipoksija terapevtska podhladitev epilepsija true false true Angleški jezik Slovenski jezik Članek v reviji 2022-04-25 11:27:19 2022-04-25 11:27:21 2022-09-15 04:13:46 0000-00-00 00:00:00 2021 0 0 11 str. iss. 9, art. 1495 Vol. 10 2021 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-053.2 2076-3921 10.3390/antiox10091495 80001283 antioxidants-10-01495-v2.pdf antioxidants-10-01495-v2.pdf 1 C5C73111A7BA6C57666282EC2431863A 59a339e3a36915773204731b12b1e0706d20885c8c6b094a1aadbb84d5139cb7 164cece5-c47a-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=155928 https://www.mdpi.com/2076-3921/10/9/1495 0 e999c0b3-c479-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=155927 Medicinska fakulteta 0 0 0