Genome-wide analysis of DNA methylation identifies S100A13 as an epigenetic biomarker in individuals with chronic (≥ 30 years) type 2 diabetes without diabetic retinopathy
Genome-wide analysis of DNA methylation identifies S100A13 as an epigenetic biomarker in individuals with chronic (≥ 30 years) type 2 diabetes without diabetic retinopathy
复制标题
DNA 甲基化的全基因组分析将 S100A13 确定为患有慢性（≤ 30 年）无糖尿病视网膜病变的 2 型糖尿病患者的表观遗传生物标志物
DOI：
10.1186/s13148-020-00871-z
复制
发表时间：
2020-06-03
影响因子：
5.7
通讯作者：
Zou, Haidong
中科院分区：
文献类型：
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作者：
Li, Tao;Xu, Yi;Zou, Haidong
本研究旨在确定2型糖尿病(T2 DM)患者糖尿病视网膜病变(DR)的表观遗传生物标志物。本研究以上海市新井市社区慢性病防治管理系统为研究对象。研究对象为在该系统中接受过长期随访评估的T2 DM患者。连续进行了两项研究。在发现队列中，在19名糖尿病持续时间为3 年的受试者和21名在被诊断为糖尿病后30 年未患DR的受试者中，使用Infinium人类甲基化850珠芯片来识别差异甲基化区域(DMR)和差异甲基化位点(DMS)。通过KEGG富集度分析、基因本体论(GO)分析和通路网络分析对这些基因的功能进行评估。在复制队列中，87名DM病程较短的DR患者和89名DM病程超过20 的非DR患者进行了比较，以评估DMS与热释光测序后DR之间的关联。DR参与者和非DR参与者之间存在前5个最大Beta值差异的DMS基因位于1号染色体上，并存在于S100A13基因中，该基因与71个围棋术语相关。S100A13基因的两个位点cg02873163和cg11343894与DR具有良好的相关性。结论S100A13基因中的DMS可能是DR的潜在生物标志物。
BackgroundThis study aimed to determine the epigenetic biomarkers of diabetic retinopathy (DR) in subjects with type 2 diabetes mellitus (T2DM). This retrospective study is based on the Shanghai Xinjing community prevention and treatment administrative system of chronic diseases. The subjects enrolled herein were T2DM patients who had undergone long-term follow-up evaluation in the system. Two consecutive studies were conducted. In the discovery cohort, among 19 subjects who had developed DR with a DM duration < 3 years and 21 subjects without DR > 30 years after being diagnosed with DM, an Infinium Human Methylation 850 Beadchip was used to identify differential methylation regions (DMRs) and differential methylation sites (DMSs). The function of the genes was assessed through KEGG enrichment analysis, Gene Ontology (GO) analysis, and pathway network analysis. In the replication cohort, 87 DR patients with a short DM duration and 89 patients without DR over a DM duration > 20 years were compared to assess the association between DMSs and DR upon pyrosequencing.ResultsA total of 34 DMRs were identified. Genes containing DMSs with the top 5 highest beta value differences between DR and non-DR participants were located on chromosome 1 and were present in the S100A13 gene, which was associated with 71 GO terms. Two S100A13 gene sites, i.e., cg02873163 and cg11343894, displayed a good correlation with DR on pyrosequencing.ConclusionsDMSs in the S100A13 gene may be potential biomarkers of DR.