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- W4313359596 abstract "Abstract Objectives To delineate the interaction network between gene transcription and DNA methylation in PBMC of systemic sclerosis (SSc) patients and to identify methylation-regulated genes which are involved in the pathogenesis of SSc. Methods Genome-wide transcriptome and DNA methylome were profiled on PBMC from 30 SSc patients and 30 matched normal controls (NC). Differential expressed genes (DEGs) and differential methylated positions (DMPs) were integratively analyzed to identify methylation-regulated genes and associated molecular pathways. Results Transcriptome profiling distinguished 453 DEGs in SSc. Global DNA methylation analysis identified 925 DMPs located on 618 genes. Integration of DEGs and DMPs revealed 20 DEGs containing inversely associated DMPs. These 20 potential methylation-regulated DEGs (MeDEGs), including 12 up-regulated genes (ELANE, CTSG, LTBR, C3AR1, CSTA, SPI1, ODF3B, SAMD4A, PLAUR, NFE2, ZYX and CTSZ) and 8 down-regulated genes (RUNX3, PRF1, PRKCH, PAG1, RASSF5, FYN, CXCR6 and F2R), are predominantly involved in the migration, proliferation, activation and inflammation of immune cells. Unsupervised cluster analysis of the top MeDEGs distinguished SSc from NC with 90% sensitivity and 87% specificity. 4 MeDEGs, F2R, FYN, PAG1 and PRKCH, exhibited significantly progressive decrease in SSc with interstitial lung disease (ILD) compared with SSc without ILD. Conclusion By integration of genome-wide transcriptome and DNA methylome, we identified differential expressed genes associated with aberrant DNA methylation in the PBMC of SSc. The epigenetically dysregulated genes may lead to the abnormal activation of immune regulatory pathways which may contribute to the pathogenesis of SSc." @default.
- W4313359596 created "2023-01-06" @default.
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- W4313359596 date "2018-05-01" @default.
- W4313359596 modified "2023-09-27" @default.
- W4313359596 title "Integration of genome-wide transcriptome and DNA methylome uncovered aberrant methylation-regulated genes and pathways in the peripheral blood mononuclear cells of systemic sclerosis" @default.
- W4313359596 doi "https://doi.org/10.4049/jimmunol.200.supp.45.28" @default.
- W4313359596 hasPublicationYear "2018" @default.
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