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

Ann Neurol. 2023 Dec;94(6):1080-1085. doi: 10.1002/ana.26807. Epub 2023 Oct 18.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Atrophy / pathology
  • Brain / pathology
  • Central Nervous System Diseases*
  • Humans
  • Magnetic Resonance Imaging / methods
  • Multiple Sclerosis* / diagnostic imaging
  • Multiple Sclerosis* / genetics
  • Multiple Sclerosis* / pathology
  • Neurodegenerative Diseases* / pathology