Epigenome-wide association studies for systemic autoimmune diseases: The road behind and the road ahead

被引:14
作者
Carnero-Montoro, Elena [1 ]
Alarcon-Riquelme, Marta E. [1 ,2 ]
机构
[1] Univ Granada, Pfizer, Andalusian Govt Ctr Genom & Oncol Res GENYO, Granada, Spain
[2] Karolinska Inst, Inst Environm Med, Unit Inflammatory Chron Dis, Solna, Sweden
关键词
NAIVE CD4+T CELLS; PRIMARY SJOGRENS-SYNDROME; DNA METHYLATION; RHEUMATOID-ARTHRITIS; LUPUS-ERYTHEMATOSUS; T-CELLS; EPIGENETIC SIGNATURES; GENE-EXPRESSION; HETEROGENEITY; WOMEN;
D O I
10.1016/j.clim.2018.03.014
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Epigenetics is known to be an important mechanism in the pathogenesis of autoimmune diseases. Epigenetic variations can act as integrators of environmental and genetic exposures and propagate activated states in immune cells. Studying epigenetic alterations by means of genome-wide approaches promises to unravel novel molecular mechanisms related to disease etiology, disease progression, clinical manifestations and treatment responses. This paper reviews what we have learned in the last five years from epigenome-wide studies for three systemic autoimmune diseases, namely systemic lupus erythematosus, primary Sjogren's syndrome, and rheumatoid arthritis. We examine the degree of epigenetic sharing between different diseases and the possible mediating role of epigenetic associations in genetic and environmental risks. Finally, we also shed light into the use of epigenetic markers towards a better precision medicine regarding disease prediction, prevention and personalized treatment in systemic autoimmunity.
引用
收藏
页码:21 / 33
页数:13
相关论文
共 91 条
[1]   Genome-Wide DNA Methylation Analysis of Systemic Lupus Erythematosus Reveals Persistent Hypomethylation of Interferon Genes and Compositional Changes to CD4+T-cell Populations [J].
Absher, Devin M. ;
Li, Xinrui ;
Waite, Lindsay L. ;
Gibson, Andrew ;
Roberts, Kevin ;
Edberg, Jeffrey ;
Chatham, W. Winn ;
Kimberly, Robert P. .
PLOS GENETICS, 2013, 9 (08)
[2]  
AHO K, 1986, J RHEUMATOL, V13, P899
[3]   Joint-specific DNA methylation and transcriptome signatures in rheumatoid arthritis identify distinct pathogenic processes [J].
Ai, Rizi ;
Hammaker, Deepa ;
Boyle, David L. ;
Morgan, Rachel ;
Walsh, Alice M. ;
Fan, Shicai ;
Firestein, Gary S. ;
Wang, Wei .
NATURE COMMUNICATIONS, 2016, 7
[4]   Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort [J].
Alarcon-Segovia, D ;
Alarcón-Riquelme, ME ;
Cardiel, MH ;
Caeiro, F ;
Massardo, L ;
Villa, AR ;
Pons-Estel, BA .
ARTHRITIS AND RHEUMATISM, 2005, 52 (04) :1138-1147
[5]   Genome-Wide DNA Methylation Patterns in Naive CD4+T Cells From Patients With Primary Sjogren's Syndrome [J].
Altorok, Nezam ;
Coit, Patrick ;
Hughes, Travis ;
Koelsch, Kristi A. ;
Stone, Donald U. ;
Rasmussen, Astrid ;
Radfar, Lida ;
Scofield, R. Hal ;
Sivils, Kathy L. ;
Farris, A. Darise ;
Sawalha, Amr H. .
ARTHRITIS & RHEUMATOLOGY, 2014, 66 (03) :731-739
[6]   The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease [J].
Astle, William J. ;
Elding, Heather ;
Jiang, Tao ;
Allen, Dave ;
Ruklisa, Dace ;
Mann, Alice L. ;
Mead, Daniel ;
Bouman, Heleen ;
Riveros-Mckay, Fernando ;
Kostadima, Myrto A. ;
Lambourne, John J. ;
Sivapalaratnam, Suthesh ;
Downes, Kate ;
Kundu, Kousik ;
Bomba, Lorenzo ;
Berentsen, Kim ;
Bradley, John R. ;
Daugherty, Louise C. ;
Delaneau, Olivier ;
Freson, Kathleen ;
Garner, Stephen F. ;
Grassi, Luigi ;
Guerrero, Jose ;
Haimel, Matthias ;
Janssen-Megens, Eva M. ;
Kaan, Anita ;
Kamat, Mihir ;
Kim, Bowon ;
Mandoli, Amit ;
Marchini, Jonathan ;
Martens, Joost H. A. ;
Meacham, Stuart ;
Megy, Karyn ;
O'Connell, Jared ;
Petersen, Romina ;
Sharifi, Nilofar ;
Sheard, Simon M. ;
Staley, James R. ;
Tuna, Salih ;
van der Ent, Martijn ;
Walter, Klaudia ;
Wang, Shuang-Yin ;
Wheeler, Eleanor ;
Wilder, Steven P. ;
Iotchkova, Valentina ;
Moore, Carmel ;
Sambrook, Jennifer ;
Stunnenberg, Hendrik G. ;
Di Angelantonio, Emanuele ;
Kaptoge, Stephen .
CELL, 2016, 167 (05) :1415-+
[7]   Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus [J].
Baechler, EC ;
Batliwalla, FM ;
Karypis, G ;
Gaffney, PM ;
Ortmann, WA ;
Espe, KJ ;
Shark, KB ;
Grande, WJ ;
Hughes, KM ;
Kapur, V ;
Gregersen, PK ;
Behrens, TW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (05) :2610-2615
[8]   Moving towards a molecular taxonomy of autoimmune rheumatic diseases [J].
Barturen, Guillermo ;
Beretta, Lorenzo ;
Cervera, Ricard ;
Van Vollenhoven, Ronald ;
Alarcon-Riquelme, Marta E. .
NATURE REVIEWS RHEUMATOLOGY, 2018, 14 (02) :75-93
[9]   Circulating interferon-α2 levels are increased in the majority of patients with systemic lupus erythematosus and are associated with disease activity and multiple cytokine activation [J].
Becker-Merok, A. ;
Ostli-Eilersten, G. ;
Lester, S. ;
Nossent, J. C. .
LUPUS, 2013, 22 (02) :155-163
[10]   Upregulation of Membrane-Bound CD40L on CD4+ T cells in Women with Primary Sjogren's Syndrome [J].
Belkhir, R. ;
Gestermann, N. ;
Koutero, M. ;
Seror, R. ;
Tost, J. ;
Mariette, X. ;
Miceli-Richard, C. .
SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 2014, 79 (01) :37-42