학술논문
A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy.
Document Type
Article
Author
Gasperi, Christiane; Wiltgen, Tun; McGinnis, Julian; Cerri, Stefano; Moridi, Thomas; Ouellette, Russell; Pukaj, Albert; Voon, Cuici; Bafligil, Cemsel; Lauerer, Markus; Andlauer, Till F. M.; Held, Friederike; Aly, Lilian; Shchetynsky, Klementy; Stridh, Pernilla; Harroud, Adil; Wiestler, Benedikt; Kirschke, Jan S.; Zimmer, Claus; Baras, Aris
Source
Subject
*CEREBRAL atrophy
*GENETIC variation
*MULTIPLE sclerosis
*MAGNETIC resonance imaging
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Language
ISSN
0364-5134
Abstract
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 [ABSTRACT FROM AUTHOR]