作者
Christiane Gasperi,Tun Wiltgen,Julian McGinnis,Stefano Cerri,Thomas Moridi,Russell Ouellette,Albert Pukaj,Cuici Voon,Cemsel Bafligil,Markus Lauerer,Till F. M. Andlauer,Friederike Held,Lilian Aly,Klementy Shchetynsky,Pernilla Stridh,Adil Harroud,Benedikt Wiestler,Jan S. Kirschke,Claus Zimmer,Aris Baras,Fredrik Piehl,Achim Berthele,Tobias Granberg,Ingrid Kockum,Bernhard Hemmer,Mark Mühlau
摘要
The minor allele of the genetic variant rs10191329 in the DYSF-ZNF638 locus is associated with unfavorable long-term clinical outcome in multiple sclerosis. 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. This article is protected by copyright. All rights reserved.