[P1-29] Cytokine related genes polymorphism in AESD and ANE
Acute encepahlopathy is a multifactorial disorder influenced by age-dependent vulnerability and environmental triggers. Genetic susceptibility is strongly suggested because acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and acute nectotizing encephalopathy (ANE) occur predominantly in East Asia. Excitotoxicity is considered as the pathogenesis of AESD. Recent studies have reported the involvement of proinflammatory cytokines, especially IL1, in neuronal excitation. After primary brain insults, such as systemic febrile infection, trauma, seizure etc, overproduction of proinflammatory cytokines may cause various damages to CNS. Cytokine storm is suspected as the pathomechanism of ANE. In the present study we focused on cytokines and related genes polymorphism as the risk factors of AESD and ANE. We genotyped polymorphism of IL1B, IL1RN, IL6, IL10, CTLA4, TLR3 and TLR4 in 91 AESD and 31 ANE patients. We collected blood samples with informed consents from the patients’ parents. Extracted genomic DNA was amplified by PCR. Genotyping of each SNP was done by direct sequencing. The frequency of each genotype was compared between patients and controls. We found an association of IL1B rs16944 genotype with AESD (p=0.008). IL1RN rs2637988 allele G frequency was higher in AESD than in controls (p=0.047). ANE patients had higher frequency of miner allele of SNPs at promoter sites in IL6 rs1800796 (p=0.007). Diplotype distribution consisting of two SNPs in IL10 (rs1800871 and rs1800872) was significantly different between ANE and controls (p=0.003). The genetic background for cytokine genes was different between AESD and ANE, and reflected each pathomechanism.