Department of Neurology, School of Medicine, Technical University of Munich, Munich, Germany.
TUM-Neuroimaging Center, School of Medicine, Technical University of Munich, Munich, Germany.
Ann Neurol. 2023 Dec;94(6):1080-1085. doi: 10.1002/ana.26807. Epub 2023 Oct 18.
The minor allele of the genetic variant rs10191329 in the DYSF-ZNF638 locus is associated with unfavorable long-term clinical outcomes in multiple sclerosis patients. We investigated if rs10191329 is associated with brain atrophy measured by magnetic resonance imaging in a discovery cohort of 748 and a replication cohort of 360 people with relapsing multiple sclerosis. We observed an association with 28% more brain atrophy per rs10191329*A allele. Our results encourage stratification for rs10191329 in clinical trials. Unraveling the underlying mechanisms may enhance our understanding of pathophysiology and identify treatment targets. ANN NEUROL 2023;94:1080-1085.
DYSF-ZNF638 基因座上的遗传变异 rs10191329 的次要等位基因与多发性硬化症患者的不良长期临床结局相关。我们在一个包含 748 名复发性多发性硬化症患者的发现队列和一个包含 360 名患者的复制队列中，研究了 rs10191329 是否与磁共振成像测量的脑萎缩有关。我们发现，rs10191329*A 等位基因每增加一个，脑萎缩的比例就会增加 28%。我们的研究结果鼓励在临床试验中对 rs10191329 进行分层。揭示潜在机制可能会增进我们对病理生理学的理解，并确定治疗靶点。神经病学年鉴 2023;94:1080-1085.
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