转录组分析结合孟德尔随机选对因果关系与糖尿病视网膜病变相关的生物标志物的选
Junyi Liu1, Jinghua Li1, Yongying Tang1
1Department of Ophthalmology, The Second Affiliated Hospital of Kunming Medical University, Kunming, China.
Frontiers in endocrinology
|July 18, 2024
概括
这项研究确定了OSER1,HIPK2和DDRGK1作为糖尿病视网膜病变 (DR) 的关键生物标志物. 这些发现为DR的潜在机制提供了新的见解,有助于其诊断和治疗.
科学领域:
- 基因组学和生物信息学
- 眼科医生 眼科 眼科
- 免疫学 免疫学 免疫学
背景情况:
- 糖尿病视网膜病变 (DR) 是一种严重的糖尿病并发症,其病因不明.
- 遗传因素被假设能够显著影响DR进展.
- 生物信息学方法对于识别DR生物标志物至关重要.
研究的目的:
- 探索糖尿病视网膜病变 (DR) 诊断和治疗的潜在生物标志物.
- 调查DR病变发生的遗传和分子基础.
- 使用已识别的生物标志物开发DR的诊断模型.
主要方法:
- 利用WGCNA和DESeq2从转录组数据集中识别候选基因 (GSE221521,GSE189005).
- 使用孟德尔随机化 (MR) 分析来确定因果关系并选择生物标志物.
- 通过ROC分析验证了生物标志物诊断疗效,并构建了一个预测性名录.
- 进行了丰富,免疫透和TF-miRNA网络分析.
- 通过RT-qPCR验证了体外生物标志物表达.
主要成果:
- 通过MR分析确定了13种具有与DR因果关系的候选生物标志物.
- OSER1,HIPK2和DDRGK1显示了DR的显著诊断性能.
- 结合这些生物标志物的诺米图显示出良好的预测准确性.
- 生物标志物与免疫,癌症和代谢途径有关.
- 在DR患者中观察到免疫细胞透的显著差异.
- 确定了hsa-mir-92a-3p,GATA2和RELA的关键监管作用.
结论:
- OSER1,HIPK2和DDRGK1已被验证为糖尿病视网膜病变 (DR) 的潜在生物标志物.
- 这些生物标志物为DR病原体提供了新的见解.
- 这些发现支持开发针对DR的有针对性的诊断和治疗策略.
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