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多发性硬化症与C9orf72 六核酸重复大小没有关联在奥地利队列中

Theresa König^1,2, Fritz Leutmezer^1,2, Thomas Berger^1,2

¹Department of Neurology, Medical University of Vienna, 1090 Vienna, Austria.

International journal of molecular sciences

|July 29, 2023

概括

这项研究在奥地利队列中没有发现C9orf72重复长度和多发性硬化症 (MS) 之间的联系. 然而,一个进展性多发性硬化症患者有C9orf72扩张,这表明复杂的神经退行性疾病的同时发生.

科学领域:

神经免疫学神经免疫学
遗传学是一个遗传学.
神经退行性疾病神经退行性疾病

背景情况:

多发性硬化症 (MS) 是一种免疫媒介的中枢神经系统疾病,影响年轻人,其特征是脱髓化和神经退行.
最近的研究表明,C9orf72基因中介重复扩张与MS之间存在潜在的关联.
了解影响MS易感性和疾病进程的遗传因素对于推进患者护理至关重要.

研究的目的:

调查C9orf72重复长度与多发性硬化症 (MS) 在单心奥地利队列中的关联.
要确定C9orf72的重复长度是否与特定的多发性硬化症病程相关 (例如,渐进性).
为了探索与非神经学对照相比,MS患者中C9orf72重复扩张的频率.

主要方法:

对382名多发性硬化患者和643名对照患者进行基因定型,以检测C9orf72重复扩张.
统计分析以比较多发性硬化症病例和对照病例之间的复发数分布.
部分分析和探索性分析,使用各种中期和病原性重复扩张的切断值.

主要成果:

在MS患者和对照人群之间没有发现C9orf72重复数分布的显著差异 (中位数=2次重复,p=0.39).
中间C9orf72重复并没有与MS相关 (p=0.23),并且没有任何进展性MS患者携带中间等位基因.
采用不同截止值 (≥7,≥17,≥24) 的探索性分析显示,群体之间没有显著的等位基因频率差异.

结论:

这项研究没有发现证据支持C9orf72重复长度与MS或其疾病过程在奥地利队列之间的关联.
一名患有病原性C9orf72扩张和可能同时存在的前性痴呆症 (bvFTD) 的单个进展性MS患者被追溯确定.
这些发现凸显了MS患者同时发生的神经退行性疾病的复杂性,需要仔细的临床评估.

关键词:

C9orf72重复扩张的重复扩张疾病异质性疾病异质性前性痴呆症 (FTD) 是一种前性痴呆.遗传变异是一种遗传变异.中间重复长度的中间重复长度.多发性硬化症 (MS) 是一种疾病.

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