AUTHOR=Fan Yue , Gao Dalong , Zhang Yingang , Zhu Jiaqiang , Zhang Feng , Wang Lu , Wen Yan , Guo Xiong , Sun Shiquan 

TITLE=Genome-Wide Differentially Methylated Region Analysis to Reveal Epigenetic Differences of Articular Cartilage in Kashin–Beck Disease and Osteoarthritis

JOURNAL=Frontiers in Cell and Developmental Biology

VOLUME=Volume 9 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2021.636291

DOI=10.3389/fcell.2021.636291

ISSN=2296-634X

ABSTRACT=Kashin-Beck disease (KBD) is a degenerative osteoarticular disorder, and displays the significant differences with osteoarthritis (OA) regarding the etiology and molecular changes in articular cartilage. However, the underlying dysfunctions of molecular mechanisms in KBD and OA remain unclear. Here, we performed the various genome-wide differentially methylated region analyses to reveal the distinct differentially methylated regions (DMRs) and corresponding differentially methylated genes (DMGs), and enriched functional pathways/GO terms for KBD and OA. We identified a total of 131 DMRs in KBD vs. Control and 58 DMRs in OA vs. Controls. We found that many interesting DMRs are linked to DMGs, such as SMOC2 and HOXD3, which are all key genes to regulate cartilage/skeletal physiologic and pathologic process, and are further enriched in skeletal system and limb associated KEGG/GO terms. Our DMR analysis indicates that KBD associated DMRs has higher proportion than OA associated DMRs in gene body regions. KBD associated DMGs were enriched in wounding and coagulation related functional pathways that may stimulated by trace elements. The identified molecular features provide novel clues for understanding the pathogenetic and therapeutic studies of both KBD and OA.