在100,000基因组计划和UK Biobank中对THAP11 CAG重复序列大小和结构的全种群探索

IF 7.4 1区 医学 Q1 CLINICAL NEUROLOGY
Chris Clarkson, Zhongbo Chen, Clarissa Rocca, Bharati Jadhav, Kristina Ibañez, Mina Ryten, Andrew J. Sharp, Henry Houlden, Arianna Tucci
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引用次数: 0

摘要

​扩增的重复序列从45到100个单位不等,CAA序列在5 ‘区域中断,在3 ’尾部有一个不间断的CAG束。目的评估THAP11重复序列的人群分布及其在神经系统疾病中的作用。方法:我们检索了来自英国基因组学的54,788名患者、来自伦敦大学学院女王广场神经病学研究所内部数据库(UCL IoN)的10,686名患者和来自英国生物银行的424,340名患者的数据。结果我们在4名无共济失调的学习困难患者和3名英国生物银行患者中发现了扩增重复序列,其中1名患有遗传性共济失调,1名患有遗传性神经病变,1名患有神经退行性疾病。我们发现CAA中断次数与总重复长度之间存在线性关系。这些结果表明,THAP11扩增在英国人群中很少见,而易于扩增的序列结构可能在非英国祖先中更为常见。©2024作者。Wiley期刊有限责任公司代表国际帕金森和运动障碍学会出版的《运动障碍》。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank
BackgroundA CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5′ region and an uninterrupted CAG tract in the 3′ tail.ObjectiveHere, we assess the population distribution of the THAP11 repeat, and its contribution to neurological diseases.MethodsWe interrogated data from 54,788 individuals from Genomics England, 10,686 patients from the UCL Queen Square Institute of Neurology in‐house database (UCL IoN), and 424,340 individuals from the UK Biobank.ResultsWe identified expanded repeats in four individuals with learning difficulties without ataxia and in three individuals in UK Biobank, one with hereditary ataxia, one with hereditary neuropathy, and one with neurodegenerative disease. We showed a linear relationship between the number of CAA interruptions and overall repeat length.ConclusionsThese results indicate that THAP11 expansions are rare in the British population and that sequence structures predisposed to expansions may be more common in non‐British ancestries. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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来源期刊
Movement Disorders
Movement Disorders 医学-临床神经学
CiteScore
13.30
自引率
8.10%
发文量
371
审稿时长
12 months
期刊介绍: Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.
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