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A genetic risk variant for multiple sclerosis severity is associated with brain atrophy.

Christiane GasperiTun WiltgenJulian McGinnisStefano CerriThomas MoridiRussell A OuelletteAlbert PukajCuici VoonCemsel BafligilMarkus LauererTill F M AndlauerFriederike HeldLilian AlyKlementy ShchetynskyPernilla StridhAdil HarroudBenedikt WiestlerJan Stefan KirschkeClaus ZimmerAris BarasFredrik PiehlAchim BertheleTobias GranbergIngrid KockumBernhard HemmerMark Mühlau
Published in: Annals of neurology (2023)
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.
Keyphrases
  • multiple sclerosis
  • white matter
  • resting state
  • clinical trial
  • genome wide
  • small molecule
  • copy number
  • cerebral ischemia
  • randomized controlled trial
  • single cell
  • blood brain barrier
  • disease activity