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镰状细胞贫血发病机制中涉及的基因和分子途径评估：生物信息学分析与未来展望。

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

作者信息

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

机构信息

Department of Bioprocess Engineering, Institute of Industrial and Environmental Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.

Department of Pathology, Faculty of Anatomical Pathology Ghaem Hospital, University of Medicine, Mashhad, Iran.

出版信息

Iran J Public Health. 2024 Jun;53(6):1404-1415.

PMID:39430157
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11488559/
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 and . 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.

摘要

背景

镰状细胞病（SCD）是一种血液系统疾病，其特征是珠蛋白链的结构和功能存在缺陷。遗传因素在SCD的发病机制中起重要作用。我们旨在研究与SCD发病机制相关的基因和通路。

方法

从基因表达综合数据库（GEO）下载微阵列数据集。使用R软件的LIMMA包检测SCD患者与对照受试者之间的上调和下调情况。分别使用GeneCodis4软件和GeneMANIA数据库进行富集分析和蛋白质-蛋白质相互作用（PPI）网络分析。使用PrognoScan数据库评估枢纽基因与患者生存之间的关系。

结果

总体而言，与对照受试者相比，在SCD患者中鉴定出447个差异表达基因（DEG）。在447个DEG中，345个基因上调，102个基因下调。SCD发病机制中的有效枢纽基因包括 和 。此外，枢纽基因具有较高的诊断价值。

结论

评估SCD中的枢纽基因可作为检测高危患者的诊断指标。此外，通过确定上游和下游通路，可以设计出患者监测和治疗中的治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/10997e6dc03f/IJPH-53-1404-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/2f9aa39ebdbb/IJPH-53-1404-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/7a0d445218b5/IJPH-53-1404-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/701ed123683c/IJPH-53-1404-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/76bd06661143/IJPH-53-1404-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/913fcf41831a/IJPH-53-1404-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/ab1d86902b7d/IJPH-53-1404-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/10997e6dc03f/IJPH-53-1404-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/2f9aa39ebdbb/IJPH-53-1404-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/7a0d445218b5/IJPH-53-1404-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/701ed123683c/IJPH-53-1404-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/76bd06661143/IJPH-53-1404-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/913fcf41831a/IJPH-53-1404-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/ab1d86902b7d/IJPH-53-1404-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c9ca/11488559/10997e6dc03f/IJPH-53-1404-g007.jpg

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