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有读书笔记A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

热1 唐唐 添加于 2010-11-22 22:19 | 2205 次阅读 | 0 个评论

  •  作 者

    Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S

  •  摘 要

    Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. Although ~15% of MMD cases are familial, the MMD gene(s) remain unknown. A genome-wide association study of 785 720 single-nucleotide polymorphisms (SNPs) was performed, comparing 72 Japanese MMD patients with 45 Japanese controls and resulting in a strong association of chromosome 17q25-ter with MMD risk. This result was further confirmed by a locus-specific association study using 335 SNPs in the 17q25-ter region. A single haplotype consisting of seven SNPs at the RNF213 locus was tightly associated with MMD (P=5.3 × 10−10). RNF213 encodes a really interesting new gene finger protein with an AAA ATPase domain and is abundantly expressed in spleen and leukocytes. An RNA in situ hybridization analysis of mouse tissues indicated that mature lymphocytes express higher levels of Rnf213 mRNA than their immature counterparts. Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 95% of MMD families, 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P=1.2 × 10−43, odds ratio=190.8, 95% confidence interval=71.7–507.9). Three additional missense mutations were identified in the p.R4859K-negative patients. These results indicate that RNF213 is the first identified susceptibility gene for MMD.

  •  详细资料

    • 文献种类: Journal Article
    • 期刊名称: Journal of Human Genetics
    • 期刊缩写: J Hum Genet
    • 期卷页: 2010年
    • ISBN: 1434-5161

  • 学科领域 生物医药 » 基础医学

  • 相关链接 DOI URL 

  •  唐唐 的文献笔记  订阅

    科学家或发现与烟雾病有关基因
    日本研究人员在新一期《人类遗传学期刊》季刊上发表论文说，他们发现了一个与烟雾病有关的基因，如果一个人体内的这个基因出现变异，那么他患烟雾病的风险会大大高于普通人。
     
    日本东北大学、山口大学等院校的研究人员采集了约70名烟雾病患者和约460名正常人的 DNA，然后进行对比。结果发现，多数烟雾病患者体内的一种叫“RNF213”的基因发生了变异。进一步的研究显示，体内“RNF213”基因发生变异的 人患烟雾病的风险是普通人的约190倍。
     
    烟雾病又称脑底异常血管网症或自发性基底动脉环闭塞症。患该病后，异常增生的血管在脑血管造影片上显示为脑底部模糊不清的网状阴影，形态如同烟囱冒出的袅袅炊烟，所以这种疾病1969年被东京大学形象地命名为烟雾病。
     

    烟雾病是一种难治之症，患者患脑中风的风险非常高。研究人员认为，今后如果能够了解“RNF213”基因的具体功能，或许有助于预测脑中风风险，并开发出预防脑中风的方法。

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