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Effects of methylation of deiodinase 3 gene on gene expression and severity of Kashin–Beck disease
Author(s) -
Li Zhaofang,
Zhang Di,
Li Qiang,
Yang Xiaoli,
Zhang Rongqiang,
Zhang Dandan,
Yang Xuena,
Wang Chen,
Tan Xiwang,
Xiong Yongmin
Publication year - 2020
Publication title -
journal of cellular physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.529
H-Index - 174
eISSN - 1097-4652
pISSN - 0021-9541
DOI - 10.1002/jcp.29809
Subject(s) - dna methylation , gene expression , iodothyronine deiodinase , gene , methylation , biology , pathogenesis , cpg site , regulation of gene expression , genetics , medicine , endocrinology , dio2 , disease , bioinformatics , deiodinase , thyroid , immunology , thyroid hormones
Kashin–Beck disease (KBD) is a complex endemic osteoarthropathy, which mainly occurs in the northeast to southwest China. Iodothyronine deiodinases 3 (DIO3) is one of the selenoproteins, which is closely related to bone metabolism and unclear to KBD. This study aims to investigate the role and associated mechanisms of methylation and expression of DIO3 with disease severity in patients with KBD. We performed a bioinformatics analysis first to identify the biological mechanisms involved in selenoproteins. The methylation status of the DIO3 gene and DIO3 gene expression, as well as DIO3 ‐related regulatory genes in patients with KBD, were analyzed. We found that 15 CpG sites of six selenoproteins were hypomethylated with 5‐azacytidine treatment. DIO3 hypermethylation was associated with an increased risk of KBD and may lead to downregulation of DIO3 gene expression as well as be an indicator of the severity of KBD, which may provide a new insight for gene–environment correlations and interactions in etiology and pathogenesis of KBD.