Identification of differential DNA methylation associated with multiple sclerosis: A family-based study
| Autor: | Ferdinando Clarelli, S. Bonfiglio, Massimo Filippi, Federica Esposito, A. Protti, Giulia Barbiera, Filippo Martinelli-Boneschi, Vittorio Martinelli, E. Stupka, Silvia Santoro, Elisabetta Mascia, Clara Guaschino, Francesca Giannese, Melissa Sorosina, Dejan Lazarevic, Jose Manuel Garcia-Manteiga, Davide Cittaro |
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| Přispěvatelé: | 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. |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Adult Male Multiple Sclerosis Immunology Genomics Biology Epigenesis Genetic 03 medical and health sciences Young Adult 0302 clinical medicine medicine Immunology and Allergy Humans Multiplex Epigenetics Gene Aged Genetics Multiple sclerosis Methylation DNA Methylation Middle Aged medicine.disease Pedigree 030104 developmental biology Differentially methylated regions Neurology Italy DNA methylation Female Neurology (clinical) 030217 neurology & neurosurgery Genome-Wide Association Study |
| Zdroj: | Journal of neuroimmunology. 356 |
| ISSN: | 1872-8421 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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