隐源性新发难治性癫痫状态的多基因景观：全基因组测序综合研究

IF 8.1 1区医学 Q1 CLINICAL NEUROLOGY

Annals of Neurology Pub Date : 2024-10-23 DOI:10.1002/ana.27100

Yoonhyuk Jang, Sung Eun Hong, Soo Hyun Ahn, Su Yee Mon, Ji Hye You, Kon Chu, Sang Kun Lee, Murim Choi, Soon-Tae Lee

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引用次数: 0

摘要

隐源性新发难治性癫痫（cNORSE）是一种发病机制不明的破坏性疾病。在这里，我们通过全基因组测序分析了来自自身免疫性脑炎观察队列的 31 名 cNORSE 患者的遗传特征。与对照组相比，cNORSE 患者在与自身免疫性疾病相关的特征方面表现出较高的多基因风险评分（PRS）。针对这些疾病的个体PRS与cNORSE的特定临床表型相关。变异富集在中枢神经系统和淋巴细胞中表达的基因中。这些结果表明，cNORSE 与其他自身免疫/自身炎症性疾病之间存在着共同的遗传框架，并与疾病的发病机制有关。ann neurol 2024.

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Polygenic Landscape of Cryptogenic New-Onset Refractory Status Epilepticus: A Comprehensive Whole-Genome Sequencing Study

Cryptogenic new-onset refractory status epilepticus (cNORSE) is a devastating condition with unclear pathogenesis. Here, we analyzed the genetic underprints of 31 cNORSE patients from an autoimmune encephalitis observational cohort through whole-genome sequencing. Compared to their controls, cNORSE patients exhibited elevated polygenic risk scores (PRS) for traits associated with autoimmune diseases. The individual PRS against these diseases were correlated with specific clinical phenotypes of cNORSE. The variants were enriched in genes expressed in the central nervous system and lymphocytes. These results suggest a shared genetic framework between cNORSE and other autoimmune/autoinflammatory diseases, and its involvement in the disease pathogenesis. ANN NEUROL 2024;96:1201–1208

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来源期刊

Annals of Neurology 医学-临床神经学

CiteScore

18.00

自引率

1.80%

发文量

270

审稿时长

3-8 weeks

期刊介绍： Annals of Neurology publishes original articles with potential for high impact in understanding the pathogenesis, clinical and laboratory features, diagnosis, treatment, outcomes and science underlying diseases of the human nervous system. Articles should ideally be of broad interest to the academic neurological community rather than solely to subspecialists in a particular field. Studies involving experimental model system, including those in cell and organ cultures and animals, of direct translational relevance to the understanding of neurological disease are also encouraged.