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Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls

  • Author(s): Nickles, D
  • Chen, HP
  • Li, MM
  • Khankhanian, P
  • Madireddy, L
  • Caillier, SJ
  • Santaniello, A
  • Cree, BAC
  • Pelletier, D
  • Hauser, SL
  • Oksenberg, JR
  • Baranzini, SE
  • et al.

Published Web Location

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781642/
No data is associated with this publication.
Abstract

Multiple sclerosis (MS) is the mostcommonautoimmune disease of the central nervous system (CNS). It is characterized by the infiltration of autoreactive immune cells into the CNS, which target the myelin sheath, leading to the loss of neuronal function. Although it is accepted that MS is a multifactorial disorder with both genetic and environmental factors influencing its development and course, the molecular pathogenesis of MS has not yet been fully elucidated. Here, we studied the longitudinal gene expression profiles of whole-blood RNA from a cohort of 195MS patients and 66 healthy controls.Weanalyzed these transcriptomes at both the individual transcript and the biological pathway level. We found 62 transcripts to be significantly up-regulated inMS patients; the expression of 11 of these genes was counter-regulated by interferon treatment, suggesting partial restoration of a 'healthy' gene expression profile. Global pathway analyses linked the proteasome and Wnt signaling to MS disease processes. Since genotypes from a subset of individuals were available, we were able to identify expression quantitative trait loci (eQTL), a number of which involved two genes of the MS gene signature. However, all these eQTLwere also present inhealthy controls. This study highlights the challenge posed by analyzing transcripts fromwhole bloodandhowthese canbemitigated byusing large, well-characterized cohorts of patients with longitudinal follow-up and multi-modality measurements. © The Author 2013. Published by Oxford University Press. All rights reserved.

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