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

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