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

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

来源：Journal of Neuroimmunology, 2021, 356: 577600.

DOI：10.1016/j.jneuroim.2021.577600

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

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 (R)).
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.

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