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論文
- タイトル
- タイトル（英）
- Association of IL-1B rs16944 Polymorphism With Acute Encephalopathy With Biphasic Seizures and Late Reduced Diffusion Is Opposite to That of Febrile Seizures.
- 参照URL
- https://researchmap.jp/kasai_yamamoto_m/published_papers/42825896
- 著者
- 著者（英）
- Akiko Shibata,Mariko Kasai,Ai Hoshino,Masashi Mizuguchi
- 担当区分
- 概要
- 概要（英）
- OBJECTIVE: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a severe neurologic complication of febrile infectious diseases in children. At the onset, AESD is clinically manifested as febrile status epilepticus. Subsequent damage to the cerebral cortex is ascribed to neurotoxicity. The incidence of AESD is remarkably high in Japan, suggesting the involvement of genetic factors. The expression of interleukin 1 beta (IL-1β), a member of the cytokine family involved in the inflammatory response, is reportedly associated with rs16944, a polymorphism in the upstream region of the IL-1B gene, being higher in TT genotype. Previous association studies of rs16944 with febrile seizures (FS) have demonstrated a significant excess in the TT vs. CC + CT genotype in the Asian population. Here, we conducted a case-control association study of rs16944 in AESD. METHODS: We genotyped rs16944 by Sanger sequencing on 283 patients with AESD. As controls, we used genotyping data of 104 Japanese individuals obtained from the 1,000 Genomes Project. Then, we performed a case-control association study using the chi-square test. RESULTS: The ratio of individuals with TT vs. those with CC+CT genotype was significantly lower in AESD than in the controls [p-value 0.021, Odds Ratio (OR) 0.52]. This finding was opposite to that of a previously reported FS. CONCLUSION: The AESD has a genetic background distinct from FS and is not a severe type of FS.
- 出版者・発行元
- 出版者・発行元（英）
- 誌名
- 誌名（英）
- Frontiers in neurology
- 巻
- 13
- 号
- 開始ページ
- 891721
- 終了ページ
- 891721
- 出版年月
- 2022年
- 査読の有無
- 査読有り
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- DOI URL
- https://doi.org/10.3389/fneur.2022.891721
- 共同研究・競争的資金等の研究課題
研究者
葛西 真梨子
(カサイ マリコ)