A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy

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; Piehl, Fredrik; Berthele, Achim; Granberg, Tobias; Kockum, Ingrid; Hemmer, Bernhard und Muehlau, Mark (2023): A Genetic Risk Variant for Multiple Sclerosis Severity is Associated with Brain Atrophy. In: Annals of Neurology, Bd. 94, Nr. 6: S. 1080-1085

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin > Munich Cluster for Systems Neurology (SyNergy)
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• Sprache: Englisch
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198