Linking genetic variation with epigenetic profiles in Sjogren's syndrome

被引：14

作者：

Arvaniti, Pinelopi ^{[1
,2
,3
]}

Le Dantec, Christelle ^{[4
]}

Charras, Amandine ^{[4
,5
,6
]}

Arleevskaya, Marina A. ^{[7
]}

Hedrich, Christian M. ^{[5
,6
]}

Zachou, Kalliopi ^{[2
,3
]}

Dalekos, George N. ^{[2
,3
]}

Renaudineau, Yves ^{[1
,4
]}

机构：

[1] Brest Univ, Med Sch Hosp, Lab Immunol & Immunotherapy, BP 824, F-29609 Brest, France

[2] Univ Hosp Larissa, Dept Med, Larisa, Greece

[3] Univ Hosp Larissa, Res Lab Internal Med, Larisa, Greece

[4] Univ Brest, CHU Brest, Lymphocytes B & Autoimmunite, INSERM,UMR1227, Brest, France

[5] Univ Liverpool, Inst Translat Med, Dept Womens & Childrens Hlth, Liverpool, Merseyside, England

[6] Alder Hey Childrens NHS Fdn Trust Hosp, Dept Paediat Rheumatol, Liverpool, Merseyside, England

[7] Kazan Fed Univ, Cent Res Lab, Kazan, Russia

来源：

CLINICAL IMMUNOLOGY | 2020年 / 210卷

基金：

俄罗斯科学基金会;

关键词：

Sjogren's syndrome; SNP; meQTL; Pro-inflammatory cytokine pathway; INTRAGENIC DNA METHYLATION; STRONG RISK-FACTOR; DISEASE-ACTIVITY; HAN CHINESE; B-CELLS; EXPRESSION; IRF5; ASSOCIATION; VARIANTS; LUPUS;

D O I：

10.1016/j.clim.2019.108314

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

DNA methylation represents an important regulatory event governing gene expression that is dysregulated in Sjogren's syndrome (SjS) and a number of autoimmune/inflammatory diseases. As disease-associated single-nucleotide polymorphisms (SNPs) have relevance in controlling DNA methylation, 94 non-HLA SjS-SNPs were investigated, among them 57 (60.6%) with widespread effects on 197 individual DNA methylation quantitative trait loci (meQTL) were selected. Typically, these SNPs are intronic, possess an active promoter histone mark, and control cis-meQTLs located around transcription start sites. Interplay is independent of the physical distance between SNPs and meQTLs. Using epigenome-wide association study datasets, SjS-meQTLs were characterized (41 genes and 13 DNA methylation CpG motifs) and for the most part map to a pro-inflammatory cytokine pathway, which is important for the control of DNA methylation in autoimmune diseases. In conclusion, exploring meQTLs represents a valuable tool to predict and investigate downstream effects of genetic factors in complex diseases such as SjS.

引用

页数：11

共 70 条

[1] 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

[2]

[Anonymous], [No title captured]

[3]

[Anonymous], [No title captured]

[4] Methylation QTLs Are Associated with Coordinated Changes in Transcription Factor Binding, Histone Modifications, and Gene Expression Levels [J].

Banovich, Nicholas E. ;

Lan, Xun ;

McVicker, Graham ;

van de Geijn, Bryce ;

Degner, Jacob F. ;

Blischak, John D. ;

Roux, Julien ;

Pritchard, Jonathan K. ;

Gilad, Yoav .

PLOS GENETICS, 2014, 10 (09)

[5] The NIH Roadmap Epigenomics Mapping Consortium [J].

Bernstein, Bradley E. ;

Stamatoyannopoulos, John A. ;

Costello, Joseph F. ;

Ren, Bing ;

Milosavljevic, Aleksandar ;

Meissner, Alexander ;

Kellis, Manolis ;

Marra, Marco A. ;

Beaudet, Arthur L. ;

Ecker, Joseph R. ;

Farnham, Peggy J. ;

Hirst, Martin ;

Lander, Eric S. ;

Mikkelsen, Tarjei S. ;

Thomson, James A. .

NATURE BIOTECHNOLOGY, 2010, 28 (10) :1045-1048

[6] Primary Sjogren's syndrome [J].

Bowman, S. J. .

LUPUS, 2018, 27 :32-35

[7] REPRESSION OF GENES BY DNA METHYLATION DEPENDS ON CPG DENSITY AND PROMOTER STRENGTH - EVIDENCE FOR INVOLVEMENT OF A METHYL-CPG BINDING-PROTEIN [J].

BOYES, J ;

BIRD, A .

EMBO JOURNAL, 1992, 11 (01) :327-333

[8] Sjogren syndrome [J].

Brito-Zeron, Pilar ;

Baldini, Chiara ;

Bootsma, Hendrika ;

Bowman, Simon J. ;

Jonsson, Roland ;

Mariette, Xavier ;

Sivils, Kathy ;

Theander, Elke ;

Tzioufas, Athanasios ;

Ramos-Casals, Manuel .

NATURE REVIEWS DISEASE PRIMERS, 2016, 2

[9] Prevalence of interferon type I signature in CD14 monocytes of patients with Sjogren's syndrome and association with disease activity and BAFF gene expression [J].

Brkic, Zana ;

Maria, Naomi I. ;

van Helden-Meeuwsen, Cornelia G. ;

van de Merwe, Joop P. ;

van Daele, Paul L. ;

Dalm, Virgil A. ;

Wildenberg, Manon E. ;

Beumer, Wouter ;

Drexhage, Hemmo A. ;

Versnel, Marjan A. .

ANNALS OF THE RHEUMATIC DISEASES, 2013, 72 (05) :728-735

[10] miRdSNP: a database of disease-associated SNPs and microRNA target sites on 3′UTRs of human genes [J].

Bruno, Andrew E. ;

Li, Li ;

Kalabus, James L. ;

Pan, Yuzhuo ;

Yu, Aiming ;

Hu, Zihua .

BMC GENOMICS, 2012, 13

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