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

共 50 条

[21] Differential DNA Methylation Associated with Lupus Nephritis
Nayak, Renuka
Chung, Sharon A.
Nitiham, Joanne
Criswell, Lindsey A.
ARTHRITIS & RHEUMATOLOGY, 2014, 66 (12) : 3533 - 3533
[22] DEVELOPMENT OF A BIOINFORMATICS PIPELINE FOR IDENTIFICATION OF DIFFERENTIAL DNA METHYLATION EVENTS ASSOCIATED WITH MEDULLOBLASTOMA RELAPSE
Kui, Christopher
Richardson, Stacey
Schwalbe, Edward C.
Thompson, Dean
Keeling, Claire
Strathdee, Gordon
Dufour, Christelle
Bailey, Simon
Ramaswamy, Vijay
Clifford, Steven C.
Hill, Rebecca M.
NEURO-ONCOLOGY, 2022, 24 : 115 - 115
[23] Identification of the Differential DNA Methylation Markers among Cancers
Liu, Hongbo
Li, Zhe
Ding, Jing
Liu, Jie
Zhang, Yan
2013 10TH INTERNATIONAL CONFERENCE ON FUZZY SYSTEMS AND KNOWLEDGE DISCOVERY (FSKD), 2013, : 730 - 734
[24] A DNA pooling strategy for family-based association studies
Lee, WC
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2005, 14 (04) : 958 - 962
[25] Identification of Differential Genes of DNA Methylation Associated With Alzheimer's Disease Based on Integrated Bioinformatics and Its Diagnostic Significance
Chen, Fan
Wang, Na
He, Xiaping
FRONTIERS IN AGING NEUROSCIENCE, 2022, 14
[26] Poor Survival in Rheumatoid Arthritis Associated with Bronchiectasis: A Family-Based Cohort Study
Puechal, Xavier
Genin, Emmanuelle
Bienvenu, Thierry
Le Jeunne, Claire
Dusser, Daniel J.
PLOS ONE, 2014, 9 (10):
[27] Identifying new associated pleiotropic SNPs with lipids by simultaneous test of multiple longitudinal traits: An Iranian family-based study
Hosseinzadeh, Nima
Mehrabi, Yadollah
Daneshpour, Maryam Sadat
Zayeri, Farid
Guity, Kamran
Azizi, Fereidoun
GENE, 2019, 692 : 156 - 169
[28] Menopause affects DNA methylation and aging in women with multiple sclerosis
Cappelletti, Chiara
Berge, Tone
Hammerstad, Sara
Hogestol, Einar
Celius, Elisabeth
Brorson, Ina
Simonsen, Cecilia
MULTIPLE SCLEROSIS JOURNAL, 2024, 30 (03) : 492 - 493
[29] Expression of DNA methylation genes in secondary progressive multiple sclerosis
Fagone, Paolo
Mangano, Katia
Di Marco, Roberto
Touil-Boukoffa, Chafia
Chikovan, Tinatin
Signorelli, Santo
Lombardo, Giuseppe A. G.
Patti, Francesco
Mammana, Santa
Nicoletti, Ferdinando
JOURNAL OF NEUROIMMUNOLOGY, 2016, 290 : 66 - 69
[30] DNA methylation changes in brains from multiple sclerosis patients
Kular, L.
Needhamsen, M.
Zeitelhofer-Adzemovic, M.
Kramarova, T.
Gomez-Cabrero, D.
Ewing, E.
Piket, E.
Tegner, J.
Beck, S.
Piehl, F.
Brundin, L.
Jagodic, M.
MULTIPLE SCLEROSIS JOURNAL, 2019, 25 : 212 - 213

← 1 2 3 4 5 →