Identification of differential DNA methylation associated with multiple sclerosis: A family-based study

J. M. Garcia-Manteiga, F. Clarelli, S. Bonfiglio, E. Mascia, F. Giannese, G. Barbiera, C. Guaschino, M. Sorosina, S. Santoro, A. Protti, V. Martinelli, D. Cittaro, D. Lazarevic, E. Stupka, M. Filippi, F. Esposito, F. Martinelli-Boneschi

Research output: Contribution to journalArticlepeer-review


Multiple Sclerosis (MS) is caused by a still unknown interplay between genetic and environmental factors. Epigenetics, including DNA methylation, represents a model for environmental factors to influence MS risk. Twenty-six affected and 26 unaffected relatives from 8 MS multiplex families were analysed in a multicentric Italian study using MeDIP-Seq, followed by technical validation and biological replication in two additional families of differentially methylated regions (DMRs) using SeqCap Epi Choice Enrichment kit (Roche®). Associations from MeDIP-Seq across families were combined with aggregation statistics, yielding 162 DMRs at FDR ≤ 0.1. Technical validation and biological replication led to 2 hypo-methylated regions, which point to NTM and BAI3 genes, and to 2 hyper-methylated regions in PIK3R1 and CAPN13. These 4 novel regions contain genes of potential interest that need to be tested in larger cohorts of patients.

Original languageEnglish
Article number577600
JournalJournal of Neuroimmunology
Publication statusPublished - Jul 15 2021


  • Autoimmune diseases
  • Epigenetics
  • Familial multiple sclerosis
  • Genomics
  • Methylation
  • Multiple sclerosis

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Neurology
  • Clinical Neurology


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