Cerebral vascular abnormality in carriers of the RNF213 risk variant detected by a new genetic test

一项新的基因检测检测出 RNF213 风险变异携带者的脑血管异常

• 批准号: 24659486
• 负责人: KURE Shigeo
• 金额: $ 2.41万
• 依托单位: Tohoku University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Challenging Exploratory Research
• 财政年份: 2012
• 资助国家: 日本
• 起止时间: 2012-04-01 至 2013-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-24659486/
• 关键词: 小児神経学; 保因者診断; モヤモヤ病; 疾患感受性遺伝子; RNF213遺伝子多型; 遺伝子検査

Moyamoya disease (MMD) manifests progressive bilateral internal carotid artery stenosis and abnormal collateral vessels. A genome-wide association study was performed, which showed a strong association of chromosome 17q25-ter with MMD risk. A single haplotype consisting of seven SNPs at the RNF213 locus was tightly associated with MMD risk. Mutational analysis of RNF213 revealed a founder mutation, c.14576G>A, in 73% of non-familial MMD cases and 1.4% of controls; carriers of this mutation have increased risk of MMD (P=1.2x10-43, odds ratio=190.8). We developed a genetic testing method for this founder mutation. The new method enables us to detect the target mutation with immunechromatography without expertize, which would be useful for evaluation of a risk for MMD risk in bedside and clinic.

Moyamoya病（MMD）表现出进行性双侧颈内动脉狭窄和异常的副血管。进行了一项全基因组关联研究，该研究表明，染色体17q25-ter与MMD风险的牢固关联。由RNF213基因座的七个SNP组成的单倍型与MMD风险紧密相关。 RNF213的突变分析显示，创始人突变C.14576G> a，在73％的非家庭MMD病例中，对照组为1.4％。该突变的载体增加了MMD的风险（p = 1.2x10-43，优势比= 190.8）。我们为该创始人突变开发了一种基因测试方法。新方法使我们能够在没有专业化的情况下通过免疫形式检测目标突变，这对于评估床边和诊所中MMD风险的风险非常有用。

项目成果

Identification of a susceptibility gene for Moyamoya disease

烟雾病易感基因的鉴定

• 发表时间: 2013
• 作者: Morita M;Kuba K;Ichikawa A;Nakayama M;Katahira J;Iwamoto R;Watanebe T;Sakabe S;Daidoji T;Nakamura S;Kadowaki A;Ohto T;Nakanishi H;Taguchi R;Nakaya T;Murakami M;Yoneda Y;Arai H;Kawaoka Y;Penninger JM;Arita M;Imai Y.;Tsuyusaki Y;中屋隆明;Kure S.
• 通讯作者: Kure S.

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

非酮症高甘氨酸血症患者服用丙戊酸钠后癫痫发作频率反而增加

• DOI: 10.1016/j.braindev.2011.01.005
• 发表时间: 2012
• 期刊: Brain Dev
• 作者: Morita M;Kuba K;Ichikawa A;Nakayama M;Katahira J;Iwamoto R;Watanebe T;Sakabe S;Daidoji T;Nakamura S;Kadowaki A;Ohto T;Nakanishi H;Taguchi R;Nakaya T;Murakami M;Yoneda Y;Arai H;Kawaoka Y;Penninger JM;Arita M;Imai Y.;Tsuyusaki Y
• 通讯作者: Tsuyusaki Y

モヤモヤ病の疾患感受性遺伝子の同定

烟雾病易感基因的鉴定

• 发表时间: 2011
• 作者: Kure S;Kamada F;Aoki Y;Abe Y;Kikuchi A;Komatsuzaki S;Kanno J;Matsubara Y;Touho H;Miyatake S;Matsumoto N.;呉繁夫
• 通讯作者: 呉繁夫

Identification of a susceptibility gene for Moyamoya disease in Japanese patients with Moyamoya disease and its clinical significance

日本烟雾病患者烟雾病易感基因的鉴定及其临床意义

• 发表时间: 2012
• 作者: Kure S;Kamada F;Aoki Y;Abe Y;Kikuchi A;Komatsuzaki S;Kanno J;Matsubara Y;Touho H;Miyatake S;Matsumoto N.
• 通讯作者: Matsumoto N.

Diagnosis of Moyamoya Disease; Revisit of Suzuki's Angiographic Grading

烟雾病的诊断；

• 发表时间: 2013
• 作者: Morita M;Kuba K;Ichikawa A;Nakayama M;Katahira J;Iwamoto R;Watanebe T;Sakabe S;Daidoji T;Nakamura S;Kadowaki A;Ohto T;Nakanishi H;Taguchi R;Nakaya T;Murakami M;Yoneda Y;Arai H;Kawaoka Y;Penninger JM;Arita M;Imai Y.;Tsuyusaki Y;中屋隆明;Kure S.;中屋隆明;Tominaga T.
• 通讯作者: Tominaga T.