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增生性糖尿病视网膜病变的生物信息与不同海拔患者相关性研究
宋康,姚勇利,梁宏,徐启玉
0
(青海省人民医院内分泌科;青海大学医学院基础医学部;西北农林科技大学生命科学学院)
摘要:
【摘要】目的 通过对RNASeq高通量测序数据进行生物信息学分析,同时结合青海省不同海拔地区患者的发病情况,探讨增生性糖尿病视网膜病变的发病机制,为该病的早期诊断提供新的思路。方法 从NCBI的GEO公共数据库中下载与增生性糖尿病视网膜病变相关的RNASeq高通量测序数据,利用R语言对差异基因进行筛选,通过DAVID在线工具对差异基因进行GO富集及信号通路分析,利用STRING对差异基因进行蛋白相互作用网络分析。利用实时荧光定量PCR技术分析ACSL5、IGF和CPS1基因在不同海拔患者中的mRNA表达情况,最后,借助于Protein isoelectric point calculator、SignalP 41 Server、KyteDoolittle Hydropathy Plots、TMHMM Server、ExPasy、RasMol等工具对IGF基因及蛋白质进行理化性质分析及三维结构功能分析。结果 共筛选出97个差异基因,其中60个基因表达上调,37个基因表达下调,这些差异基因参与多种生物学过程及信号通路,通过STRING蛋白网络互作分析,共筛选出10个潜在的与增生性糖尿病视网膜病变相关的节点基因。结论 10个基因可能是该病潜在的治疗靶点,而又以ACSL5、CPS1和IGF三种基因尤为重要,与增生性糖尿病视网膜病变的发病情况密切相关;提示ACSL5、CPS1和IGF可成为高原不同海拔地区增生性糖尿病视网膜病变的早期诊断指标。
关键词:  增生性糖尿病视网膜病变  生物信息学  不同海拔
DOI:
基金项目:中华医学会临床医学科研专项资金 施贵宝内分泌糖尿病研究项目国家重点研发计划资助项目
Bioinformatic analysis of genes and patients with different altitude related to proliferative diabetic retinopathy
SONG Kang,YAO Yongli,LIANG Hong,XU Qiyu
(Department of Endocrine, Qinghai People’s Hospital;Medical College of Qinghai University, Xining;Northwest Agriculture and Forestry University, Xianyang)
Abstract:
【Abstract】 Objective To investigate the genes associated with proliferative diabetic retinopathy (PDR) and to explore the molecular mechanism, bioinformatics analysis was used in RNASeq high throughput sequencing data combine the incidence of patients at different altitudes in Qinghai Province to provide a new insight of this disease. Methods The RNASeq high throughput sequencing data of proliferative diabetic retinopathy were downloaded from the Gene Expression Omnibus (GEO) database and R Language was used to screen differentially expressed genes. The GO and KEGG analysis of differentially expressed genes were conducted by the tool DAVID and the proteinprotein interaction network analysis was conducted by the tool SRTING. Besides, realtime fluorescent quantitative PCR was used to quantify mRNA expression level of ACSL5, IGF and CPS1 gene in different elevation in patients. Finally, the structure and function of IGF gene were investigated by some bioinformatic tools. Results Of all the 97 differentially expressed genes, 60 genes were of overexpressed, 37 genes were underexpressed, and all the different genes were involved in different biological process and molecular functions. Totally 10 genes were selected through STRING showed that may be a potential therapeutic target, which needs a further study together with molecular experiments. Conclusion All 10 genes are likely to be the potential therapeutic target for this disease, and the incidence of ACSL5, CPS1, and IGF have a very close relationship with PDR. The ACSL5, CPS1 and IGF could be used as an index in the early diagnosis in areas of different altitude of PDR.
Key words:  Proliferative diabetic retinopathy  Bioinformatics  Different altitudes

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