TCERG1L hypermethylation is a risk factor of diabetic retinopathy in Chinese children with type 1 diabetes  

作　　者：Yu Qian Ying Xiao Qiu-Rong Lin Zhao-Yu Xiang Li-Pu Cui Jia-Qi Sun Si-Cong Li Xin-Ran Qin Hai-Dong Zou Chen-Hao Yang Pei-Yao Jin 

机构地区：[1]Department of Ophthalmology,Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai First People’s Hospital,Shanghai 200080,China [2]Shanghai Eye Diseases Prevention&Treatment Center,Shanghai Eye Hospital,Shanghai 200040,China [3]National Clinical Research Center for Eye Diseases,Shanghai Clinical Research Center for Eye Diseases,Shanghai Key Clinical Specialty,Shanghai Key Laboratory of Ocular Fundus Diseases,Shanghai Engineering Center for Visual Science and Photomedicine,Shanghai Engineering Center for Precise Diagnosis and Treatment of Eye Diseases,Shanghai 200080,China [4]Department of Ophthalmology,Children’s Hospital of Fudan University,Shanghai 201102,China

出　　处：《International Journal of Ophthalmology(English edition)》2024年第3期537-544,共8页国际眼科杂志（英文版）

基　　金：Supported by the National Key Research and Development Program of China(No.2016YFC0904800);National Natural Science Foundation of China(No.82101181);China Scholarship Council(No.201506230096);Shanghai Sailing Program(No.19YF1439700).

摘　　要：●AIM:To identify the differential methylation sites(DMS)and their according genes associated with diabetic retinopathy(DR)development in type 1 diabetes(T1DM)children.●METHODS:This study consists of two surveys.A total of 40 T1DM children was included in the first survey.Because no participant has DR,retina thinning was used as a surrogate indicator for DR.The lowest 25%participants with the thinnest macular retinal thickness were included into the case group,and the others were controls.The DNA methylation status was assessed by the Illumina methylation 850K array BeadChip assay,and compared between the case and control groups.Four DMS with a potential role in diabetes were identified.The second survey included 27 T1DM children,among which four had DR.The methylation patterns of the four DMS identified by 850K were compared between participants with and without DR by pyrosequencing.●RESULTS:In the first survey,the 850K array revealed 751 sites significantly and differentially methylated in the case group comparing with the controls(|Δβ|>0.1 and Adj.P<0.05),and 328 of these were identified with a significance of Adj.P<0.01.Among these,319 CpG sites were hypermethylated and 432 were hypomethylated in the case group relative to the controls.Pyrosequencing revealed that the transcription elongation regulator 1 like(TCERG1L,cg07684215)gene was hypermethylated in the four T1DM children with DR(P=0.018),which was consistent with the result from the first survey.The methylation status of the other three DMS(cg26389052,cg25192647,and cg05413694)showed no difference(all P>0.05)between participants with and without DR.●CONCLUSION:The hypermethylation of the TCERG1L gene is a risk factor for DR development in Chinese children with T1DM.

关 键 词：DNA methylation 850K array PYROSEQUENCING diabetic retinopathy type 1 diabetes CHILDREN 

分 类 号：R587.2[医药卫生—内分泌] R774.1[医药卫生—内科学]