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Crosstalk between CpG Methylation and Polymorphisms (CpG-SNPs) in the Promotor Region of DIO2 in Kashin-Beck Disease / 中国医学科学杂志(英文版)
Chinese Medical Sciences Journal ; (4): 52-59, 2022.
Article Dans Anglais | WPRIM | ID: wpr-928247
ABSTRACT
Objective This study was designed to determine the methylation profile of four CpGs and the genotypes of two CpG-SNPs located in promoter region of DIO2 in patients with Kashin-Beck disease (KBD). We also analyzed the interaction between the CpGs methylations and CpG-SNPs. Methods Whole blood specimens were collected from 16 KBD patients and 16 healthy subjects. Four CpGs and two CpG-SNPs in the promoter regions of DIO2 were detected using matrix-assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS). The CpGs methylation levels were compared between samples from KBD patients and healthy subjects. The methylation levels were also analyzed in KBD patients with different CpG-SNP genotypes. Results The mRNA expression of DIO2 in whole blood of KBD patients was significnatly lower than in healthy controls (P <0.05). The methylation levels of DIO2-1_CpG_3 in KBD patients were significantly higher than those in healthy controls (P <0.05). The methylation levels of four CpGs were not significantly different between KBD patients and healthy controls. The methylation level of DIO2-1_CpG_3 in the promoter region of DIO2 in KBD patients with GA/AA genotype was significantly higher than that of KBD patients with GG genotype (P <0.05). Conclusion The methylation level of DIO2 increases in KBD patients. Similar trends exist in KBD carriers of variant genotypes of CpG-SNPs DIO2 rs955849187.
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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Études cas-témoins / Régions promotrices (génétique) / Polymorphisme de nucléotide simple / Maladie de Kashin-Beck / Iodide peroxidase / Méthylation Type d'étude: Étude observationnelle Limites du sujet: Humains langue: Anglais Texte intégral: Chinese Medical Sciences Journal Année: 2022 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Études cas-témoins / Régions promotrices (génétique) / Polymorphisme de nucléotide simple / Maladie de Kashin-Beck / Iodide peroxidase / Méthylation Type d'étude: Étude observationnelle Limites du sujet: Humains langue: Anglais Texte intégral: Chinese Medical Sciences Journal Année: 2022 Type: Article