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

作　　者：Rongqiang Zhang Dandan Zhang Di Zhang Xiaoli Yang Qiang Li Chen Wang Xuena Yang Yongmin Xiong 

机构地区：[1]School of Public Health,Shaanxi University of Chinese Medicine,Xianyang,Shaanxi,712046,China [2]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

出　　处：《Chinese Medical Sciences Journal》2022年第1期52-59,共8页中国医学科学杂志（英文版）

基　　金：supported by the National Natural Science Foundation of China(82073494);Key Re-search and Development Program of Shaanxi Prov-ince(2020SF-076);Special R&D Program Proj-ect of Chinese Academy of Se-enriched Industry(2020FXZX0501);the Subject Innovation Team of Shaanxi University of Chinese Medicine(132041933).

摘　　要：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.

关 键 词：Kashin-Beck disease DNA methylation CPG CpG-SNP 

分 类 号：R684.1[医药卫生—骨科学]