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Genes associated with multiple system atrophy
Nature Reviews Neurology ( IF 28.2 ) Pub Date : 2024-06-04 , DOI: 10.1038/s41582-024-00986-4
Ian Fyfe 1
Affiliation  

Analysis of whole-genome data from people with multiple system atrophy (MSA) has identified novel genetic loci associated with the disease. The study, which included data from 888 people with MSA and 7,128 healthy control individuals, revealed four risk loci, and functional analysis indicated the involvement of three genes at these loci — USP38-DT, KCTD7 and lnc-KCTD7-2. The work provides insight into the currently unknown genetic architecture of MSA, and the publicly available data that were generated will facilitate further investigation.



中文翻译:


与多系统萎缩相关的基因



对多系统萎缩 (MSA) 患者的全基因组数据分析确定了与该疾病相关的新遗传位点。该研究包括来自 888 名 MSA 患者和 7,128 名健康对照个体的数据,揭示了四个风险位点,功能分析表明这些位点涉及三个基因——USP38-DTKCTD7lnc-KCTD7-2。这项工作提供了对目前未知的 MSA 遗传结构的见解,生成的公开数据将有助于进一步调查。

更新日期:2024-06-04
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