microRNA profiling in the aqueous humor of highly myopic eyes by next generation sequencing. microRNA profiling in the aqueous humor of highly myopic eyes by next generation sequencing

Purpose: To characterize microRNAs (miRNAs) and their possible roles in high myopia by using next generation sequencing Methods: Aqueous humor samples were obtained from 15 highly myopic eyes and 15 cataract eyes at the onset of surgery. miRNA next generation sequencing and bioinformatics analyses were performed using RNA extracted from aqueous humor samples. Results: A total of 341 miRNAs were detected in the aqueous humor samples of highly myopic eyes; 201 miRNAs were detected in the aqueous humor samples of cataractous control eyes. A total of 249 mature miRNAs and 17 novel miRNAs were differentially expressed during myopia. Possible pathways regulated by these aberrantly expressed miRNAs included the TNF, MAPK, PI3K-Akt, and HIF-1 signaling pathways. Conclusions: The current study provided an overall view of miRNA profiling in the aqueous humor of highly myopic eyes. These profiles may be associated with myopia pathogenesis, and are potential biomarkers. Overall design: miRNA profiles in aqueous humor of highly myopic patients (15 eyes of 15 patients), aqueous humor of cataract patients as control (15 eyes of 15 patients) , aquous humor from 3 eyes mixed as 1 sample, detected in quintuplicate, using Illumina Hiseq4000

本研究旨在借助下一代测序技术，对高度近视患者房水中的微小核糖核酸（microRNAs）及其潜在作用进行表征。
方法：本研究于手术术中采集了15例高度近视眼与15例白内障眼的房水样本。采用从上述房水样本中提取的RNA，开展微小核糖核酸下一代测序及生物信息学分析。
结果：本研究在高度近视眼的房水样本中共检测到341种微小核糖核酸；在白内障对照眼的房水样本中共检测到201种微小核糖核酸。近视状态下共有249种成熟型微小核糖核酸与17种新型微小核糖核酸呈现差异表达。这些异常表达的微小核糖核酸所调控的潜在信号通路包括肿瘤坏死因子（TNF）、丝裂原活化蛋白激酶（MAPK）、磷脂酰肌醇3-激酶-蛋白激酶B（PI3K-Akt）以及缺氧诱导因子1（HIF-1）信号通路。
结论：本研究全面呈现了高度近视眼房水中的微小核糖核酸表达谱。该表达谱或与近视发病机制相关，且可作为潜在的生物标志物。
整体实验设计：分别采集15例高度近视患者（共15眼）与15例白内障患者（共15眼）的房水样本作为对照；将3例患者的房水混合为1份样本，设置5次生物学重复，采用Illumina Hiseq4000平台进行测序检测。