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.

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

School of Public Health,Shaanxi University of Chinese Medicine,Xianyang,Shaanxi,712046,China;Institute of Endemic Diseases and Key Laboratory of Trace Elements and Endemic Diseases,National Health Commission of the People's Republic of China,School of Public Health,Xi'an Jiaotong University Health Science Center,Xi'an 710061,China

中国医学科学杂志（英文版）

[1]Rongqiang Zhang;Dandan Zhang;Di Zhang;Xiaoli Yang;Qiang Li;Chen Wang;Xuena Yang;Yongmin Xiong-.Crosstalk between CpG Methylation and Polymorphisms (CpG-SNPs) in the Promotor Region of DIO2 in Kashin-Beck Disease)[J].中国医学科学杂志（英文版）,2022(01):52-59

Promotor,CpGs,significnatly,rs955849187

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