Crosstalk between CpG Methylation and Polymorphisms (CpG-SNPs) in the Promotor Region of DIO2 in Kashin-Beck Disease | Zendy

Rongqiang Zhang | Zendy; Dandan Zhang | Zendy; Di Zhang | Zendy; Xiaoli Yang | Zendy; Qiang Li | Zendy; Chen Wang | Zendy; Xuena Yang | Zendy; Yongmin Xiong | Zendy

Open Access

Crosstalk between CpG Methylation and Polymorphisms (CpG-SNPs) in the Promotor Region of <i>DIO2</i> in Kashin-Beck Disease

Author(s) -

Rongqiang Zhang,

Dandan Zhang,

Di Zhang,

Xiaoli Yang,

Qiang Li,

Chen Wang,

Xuena Yang,

Yongmin Xiong

Publication year - 2022

Publication title -

chinese medical sciences journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.215

H-Index - 21

ISSN - 1001-9294

DOI - 10.24920/003953

Subject(s) - cpg site , single nucleotide polymorphism , genotype , methylation , promoter , dna methylation , microbiology and biotechnology , snp , medicine , biology , genetics , gene , gene expression

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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