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
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| WPRIM
| ID: wpr-928247
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Estudios de Casos y Controles
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Regiones Promotoras Genéticas
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Polimorfismo de Nucleótido Simple
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Enfermedad de Kashin-Beck
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Yoduro Peroxidasa
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Metilación
Tipo de estudio:
Observational_studies
Límite:
Humans
Idioma:
En
Revista:
Chinese Medical Sciences Journal
Año:
2022
Tipo del documento:
Article