Genetic susceptibility to febrile seizures : case-control association studies

热性惊厥的遗传易感性：病例对照关联研究

• 批准号: 18591157
• 负责人: KIRA Ryutaro
• 金额: $ 2.57万
• 依托单位: Kyushu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2006
• 资助国家: 日本
• 起止时间: 2006 至 2007
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-18591157/
• 关键词: febrile seizures; gene; polymorphism; cytokine; interleukin; association study; 脳炎; UNC93B1; Toll-like receptor; innate immunity; マウス

A genetic predisposition to febrile seizures (FS) has long been recognized. The inheritance appears to be polygenic in small families or sporadic cases of FS encountered in daily clinical practice. To determine whether candidate genes are responsible for the susceptibility to FS, we have performed genetic association studies in FS patients and controls.The single-nucleotide polymorphisms (SNPs) of genes involved in immune response (interleukin (IL) 1B), endocannabinoid signaling (CNR1), acid-base balance (SLC 4A3, SLC9A1, SLC9A3), gap junction channel (CX43), and GABAA receptor trafficking (PRIP1) were examined in 249 FS patients (186 simple and 63 complex FS) and 225 controls.There were no significant differences in the allele frequencies of the SNPs between controls and all FS, simple FS, and complex FS patients. When the simple FS patients were divided into two groups according to either having (familial) or not having a family history of FS in near relatives (sporadic), there was a significant association between IL1B-592 SNP and sporadic simple FS (p=0.003).These data suggest that cytokine genes may act as enhancers or attenuators of simple FS susceptibility. Genetic association study may be an effective approach to understanding the molecular basis of FS at least in a subgroup of patients.

热性惊厥（FS）的遗传易感性早已被认识到。遗传似乎是多基因的小家庭或零星病例遇到的FS在日常临床实践。为了确定候选基因是否对FS易感性负责，我们在FS患者和对照组中进行了遗传关联研究。在249例FS患者（186例单纯FS和63例复杂FS）和225例对照中，检测了免疫应答基因（白介素（IL） 1B）、内源性大麻素信号传导（CNR1）、酸碱平衡（SLC 4A3、SLC9A1、SLC9A3）、间隙连接通道（CX43）和GABAA受体转运（PRIP1）的单核苷酸多态性（snp）。在对照组和所有FS、简单FS和复杂FS患者之间，snp的等位基因频率无显著差异。将单纯性FS患者按有（家族性）或无近亲属FS家族史（散发性）分为两组，IL1B-592 SNP与散发性单纯性FS存在显著相关性（p=0.003）。这些数据表明细胞因子基因可能作为单纯FS易感性的增强或减弱者。遗传关联研究可能是了解FS分子基础的有效途径，至少在一个亚组患者中是如此。

项目成果

Epstein-Barr virus load in cerebrospinal fluid of patients with chronic active Epstein-Barr virus infection.

慢性活动性 Epstein-Barr 病毒感染患者脑脊液中 Epstein-Barr 病毒载量。

• 发表时间: 2008
• 期刊: The Pediatric Infectious Disease Journal 27
• 作者: Shintaku H;et al.;Shintaku H;M. Ishimura;Yoshito Ishizaki;Shoichi Ohga
• 通讯作者: Shoichi Ohga

The relationship between retrieval success and task performance during the recognition of meaningless shapes:an event-related near-infrared spectroscopy study

识别无意义形状期间检索成功与任务绩效之间的关系：与事件相关的近红外光谱研究

• 发表时间: 2007
• 期刊: Neuroscience Research 59
• 作者: M. Sanefuji;T. Hoshina;JR. Pipo-Deveza;Y. Ishizaki;M. Sanefuji;Takashi Ichiyama;Masafumi Sanefuji;楠原浩一;鳥巣浩幸;T. Ichiyama;M. Sanefuji;Masafumi Sanefuji
• 通讯作者: Masafumi Sanefuji

多発性硬化症の診断と治療

多发性硬化症的诊断和治疗

• 发表时间: 2021
• 期刊: 日本内科学会雑誌
• 作者: Ohya Yuki;Tasaki Masayoshi;Hayashida Shintaro;Katayama Nobuhiro;Tsuchida Toru;Kuriwaki Kazumi;Ueda Mitsuharu;Inomata Yukihiro;中原仁
• 通讯作者: 中原仁

A novel R275X Mutation of the SLC25A15 gene in a Japanese patient with the HHH Syndrome.

日本 HHH 综合征患者的 SLC25A15 基因出现新的 R275X 突变。

• 发表时间: 2006
• 期刊: Brain and Development 28
• 作者: M. Sanefuji;T. Hoshina;JR. Pipo-Deveza;Y. Ishizaki;M. Sanefuji;Takashi Ichiyama;Masafumi Sanefuji;楠原浩一;鳥巣浩幸;T. Ichiyama;M. Sanefuji;Masafumi Sanefuji;楠原 浩一;鳥巣 浩幸;Takaaki Ishizu;Megumi Takemoto;Hiroyuki Torisu;Yasunari Sakai;Yasunari Sakai;Masafumi Sanefuji;Hiroaki Tamura;Jun Muneuchi;T. Ishizu;M Takemoto;H. Torisu;Y. Sakai;Y. Sakai;H. Tamura;J. Muneuchi;Yasunari Sakai;Hiroyuki Torisu
• 通讯作者: Hiroyuki Torisu

Sjogren's syndrome-associated meningoencephalomyelitis: Cerebrospinal fluid cytokine levels and therapeutic utility of tacrolimus

• DOI: 10.1016/j.jns.2007.10.009
• 发表时间: 2008-04-15
• 期刊: JOURNAL OF THE NEUROLOGICAL SCIENCES
• 影响因子: 4.4
• 作者: Hoshina, Takayuki;Yamaguchi, Yui;Hara, Toshiro
• 通讯作者: Hara, Toshiro