Evaluation of Genes and Molecular Pathways Involved in Pathogenesis of Sickle Cell Anemia: A Bioinformatics Analysis and Future Perspective.

IF 1.3 4区医学 Q4 PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH

Iranian Journal of Public Health Pub Date : 2024-06-01

Reza Maddah, Sareh Etemad, Bahareh Shateri Amiri, Hajarossadat Ghaderi, Hamidreza Zarei, Ferdos Faghihkhorasani, Hadi Rezaeeyan

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引用次数: 0

Abstract

Background: Sickle cell disease (SCD) is one of the hematological disorders characterized by a defect in the structure and function of globin chains. Hereditary factors play an important role in the pathogenesis of SCD. We aimed to investigate the genes and pathways related to the pathogenesis of SCD.

Methods: Microarray dataset was downloaded from the Gene Expression Omnibus (GEO) database. LIMMA package of R-software was used to detect UP and Down regulations between SCD and control subjects. Enrichment analysis and Protein-protein interaction (PPI) networks were performed using GeneCodis4 software and GeneMANIA database, respectively. PrognoScan database was used to evaluate the relationship between the hub genes and patients' survival.

Results: Overall, 447 DEGs were identified in SCD patients compared to control subjects. Out of 447 DEGs, 345 genes were up-regulated and 102 genes were down-regulated. Effective hub genes in SCD pathogenesis include SLC4A1, DTL, EPB42, SNCA, and TOP2A. In addition, hub genes had a high diagnostic value.

Conclusion: Evaluation of hub genes in SCD can be used as a diagnostic panel to detect high-risk patients. In addition, by identifying the UP and Down stream pathways, treatment strategies in the monitoring and treatment of patients can be designed.

本刊更多论文

评估镰状细胞性贫血发病机制中的基因和分子途径：生物信息学分析与未来展望》。

背景：镰状细胞病（SCD）是以球蛋白链的结构和功能缺陷为特征的血液病之一。遗传因素在 SCD 的发病机制中起着重要作用。我们旨在研究与 SCD 发病机制相关的基因和通路：从基因表达总库（GEO）数据库下载芯片数据集。方法：从基因表达全库（GEO）数据库下载芯片数据集，使用R软件包LIMMA检测SCD和对照组之间的上调和下调。利用 GeneCodis4 软件和 GeneMANIA 数据库分别进行了富集分析和蛋白质-蛋白质相互作用（PPI）网络分析。PrognoScan 数据库用于评估中枢基因与患者生存之间的关系：结果：与对照组相比，SCD 患者共鉴定出 447 个 DEGs。在447个DEGs中，345个基因上调，102个基因下调。在SCD发病机制中有效的枢纽基因包括SLC4A1、DTL、EPB42、SNCA和TOP2A。此外，枢纽基因还具有很高的诊断价值：结论：对SCD中的枢纽基因进行评估，可作为检测高危患者的诊断面板。此外，通过识别上行和下行通路，可以设计出监测和治疗患者的治疗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Iranian Journal of Public Health PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH-

CiteScore

2.20

自引率

7.10%

发文量

300

审稿时长

3-8 weeks

期刊介绍： Iranian Journal of Public Health has been continuously published since 1971, as the only Journal in all health domains, with wide distribution (including WHO in Geneva and Cairo) in two languages (English and Persian). From 2001 issue, the Journal is published only in English language. During the last 41 years more than 2000 scientific research papers, results of health activities, surveys and services, have been published in this Journal. To meet the increasing demand of respected researchers, as of January 2012, the Journal is published monthly. I wish this will assist to promote the level of global knowledge. The main topics that the Journal would welcome are: Bioethics, Disaster and Health, Entomology, Epidemiology, Health and Environment, Health Economics, Health Services, Immunology, Medical Genetics, Mental Health, Microbiology, Nutrition and Food Safety, Occupational Health, Oral Health. We would be very delighted to receive your Original papers, Review Articles, Short communications, Case reports and Scientific Letters to the Editor on the above mentioned research areas.