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

被引：3

作者：

Garcia-Manteiga, J. M. ^{[1
]}

Clarelli, F. ^{[2
]}

Bonfiglio, S. ^{[1
]}

Mascia, E. ^{[2
]}

Giannese, F. ^{[1
]}

Barbiera, G. ^{[1
,12
]}

Guaschino, C. ^{[3
]}

Sorosina, M. ^{[2
]}

Santoro, S. ^{[2
]}

Protti, A. ^{[4
]}

Martinelli, V. ^{[5
]}

Cittaro, D. ^{[1
]}

Lazarevic, D. ^{[1
]}

Stupka, E. ^{[1
]}

Filippi, M. ^{[5
,6
,7
,8
]}

Esposito, F. ^{[2
,5
]}

Martinelli-Boneschi, F. ^{[2
,9
,10
,11
]}

机构：

[1] San Raffaele Sci Inst IRCCS, Ctr Omics Sci, Milan, Italy

[2] IRCCS San Raffaele Sci Inst, Div Neurosci, Inst Expt Neurol INSPE, Lab Human Genet Neurol Disorders, Milan, Italy

[3] St Antonio Abate Hosp, Dept Neurol, Gallarate, Italy

[4] Osped Niguarda Ca Granda, Dept Neurol, Milan, Italy

[5] Ist Sci San Raffaele, Neurol Unit, Via Olgettina 48, I-20132 Milan, Italy

[6] Univ Vita Salute San Raffaele, Via Olgettina 48, I-20132 Milan, Italy

[7] IRCCS San Raffaele Sci Inst, Div Neurosci, Neuroimaging Res Unit, Via Olgettina 48, I-20132 Milan, Italy

[8] IRCCS San Raffaele Sci Inst, San Raffaele Sci Inst, Neurophysiol Unit, Via Olgettina 48, I-20132 Milan, Italy

[9] Univ Milan, Dino Ferrari Ctr, Neurosci Sect, Dept Pathophysiol & Transplantat DEPT, Via Francesco Sforza 35, I-20122 Milan, Italy

[10] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Via Francesco Sforza 35, I-20122 Milan, Italy

[11] Fdn IRCCS Ca Granda Osped Maggiore Policlin, MS Ctr, Via Francesco Sforza 35, I-20122 Milan, Italy

[12] San Raffaele Telethon Inst Gene Therapy, Milan, Italy

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2021年 / 356卷

关键词：

Multiple sclerosis; Familial multiple sclerosis; Epigenetics; Methylation; Autoimmune diseases; Genomics; SYNAPTIC PLASTICITY; TWINS DISCORDANT; GENOME; PACKAGE; SEQ;

D O I：

10.1016/j.jneuroim.2021.577600

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

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.

引用

页数：10

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