Linking genetic variation with epigenetic profiles in Sjögren's syndrome - Archive ouverte HAL
Article Dans Une Revue Clinical Immunology Année : 2020

Linking genetic variation with epigenetic profiles in Sjögren's syndrome

Résumé

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.
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hal-02431049 , version 1 (21-07-2022)

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Pinelopi Arvaniti, Christelle Le Dantec, Amandine Charras, Marina Arleevskaya, Christian Hedrich, et al.. Linking genetic variation with epigenetic profiles in Sjögren's syndrome. Clinical Immunology, 2020, 210, pp.108314. ⟨10.1016/j.clim.2019.108314⟩. ⟨hal-02431049⟩
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