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 et al. · Ann Neurol · 2023

prospective_cohort · Level II

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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.

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