Linking genetic variation with epigenetic profiles in Sjögren's syndrome

Crown Copyright © 2019. Published by Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 210(2020) vom: 01. Jan., Seite 108314
1. Verfasser: Arvaniti, Pinelopi (VerfasserIn)
Weitere Verfasser: Le Dantec, Christelle, Charras, Amandine, Arleevskaya, Marina A, Hedrich, Christian M, Zachou, Kalliopi, Dalekos, George N, Renaudineau, Yves
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Journal Article Research Support, Non-U.S. Gov't Pro-inflammatory cytokine pathway SNP Sjögren's syndrome meQTL Cytokines
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520 |a DNA methylation represents an important regulatory event governing gene expression that is dysregulated in Sjögren'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 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a Pro-inflammatory cytokine pathway 
650 4 |a SNP 
650 4 |a Sjögren's syndrome 
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700 1 |a Le Dantec, Christelle  |e verfasserin  |4 aut 
700 1 |a Charras, Amandine  |e verfasserin  |4 aut 
700 1 |a Arleevskaya, Marina A  |e verfasserin  |4 aut 
700 1 |a Hedrich, Christian M  |e verfasserin  |4 aut 
700 1 |a Zachou, Kalliopi  |e verfasserin  |4 aut 
700 1 |a Dalekos, George N  |e verfasserin  |4 aut 
700 1 |a Renaudineau, Yves  |e verfasserin  |4 aut 
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