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急性高原病相关基因共表达网络及枢纽基因的研究。

Investigation of the gene co-expression network and hub genes associated with acute mountain sickness.

机构信息

Department of Hepatopancreatobiliary and Splenic Medicine, Characteristic Medical Center of People's Armed Police Force, Tianjin, 300162, China.

Tianjin Key Laboratory of Hepatopancreatic Fibrosis and Molecular Diagnosis and Treatment, Tianjin, 300162, China.

出版信息

Hereditas. 2020 Apr 16;157(1):13. doi: 10.1186/s41065-020-00127-z.

DOI:10.1186/s41065-020-00127-z
PMID:32299499
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7164164/
Abstract

BACKGROUND

Acute mountain sickness has become a heavily researched topic in recent years. However, the genetic mechanism and effects have not been elucidated. Our goal is to construct a gene co-expression network to identify the key modules and hub genes associated with high altitude hypoxia.

RESULTS

The GSE46480 dataset of rapidly transported healthy adults with acute mountain sickness was selected and analyzed by weighted gene co-expression network analysis (WGCNA) to construct a co-expression network. The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis of the data set were carried out using Database for Annotation Visualization and Integrated Discovery (DAVID), and the hub genes were selected. We found that the turquoise module was most significantly correlated with acute mountain sickness. The functional enrichment analysis showed that the turquoise module was related to the apoptotic process, protein transport, and translation processes. The metabolic pathway analysis identified hsa03010:ribosome and hsa04144:endocytosis as the most important pathways in the turquoise module. Ten top 10 hub genes (MRPL3, PSMC6, AIMP1, HAT1, DPY30, ATP5L, COX7B, UQCRB, DPM1, and COMMD6) for acute mountain sickness were identified.

CONCLUSION

One module and 10 hub genes were identified, which were related to acute mountain sickness. The reference provided by this module may help to elucidate the mechanism of acute mountain sickness. In addition, the hub genes may be used in the future as a biomarker and therapeutic target for accurate diagnosis and treatment.

摘要

背景

急性高原病近年来已成为研究热点，但遗传机制和作用尚未阐明。我们的目标是构建一个基因共表达网络，以识别与高原低氧相关的关键模块和枢纽基因。

结果

选择并分析了 GSE46480 数据集，该数据集包含快速转运的健康急性高原病患者，通过加权基因共表达网络分析（WGCNA）构建共表达网络。使用数据库进行基因本体（GO）和京都基因与基因组百科全书（KEGG）富集分析（DAVID），并选择枢纽基因。发现 turquoise 模块与急性高原病最显著相关。功能富集分析表明，turquoise 模块与凋亡过程、蛋白质转运和翻译过程有关。代谢途径分析确定 hsa03010：核糖体和 hsa04144：内吞作用是 turquoise 模块中最重要的途径。鉴定出 10 个急性高原病的 top10 枢纽基因（MRPL3、PSMC6、AIMP1、HAT1、DPY30、ATP5L、COX7B、UQCRB、DPM1 和 COMMD6）。

结论

鉴定出一个模块和 10 个枢纽基因，与急性高原病相关。该模块提供的参考可能有助于阐明急性高原病的发病机制。此外，枢纽基因将来可作为准确诊断和治疗的生物标志物和治疗靶点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/c4fdad6f1588/41065_2020_127_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/827ed8573315/41065_2020_127_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/2bc7b7139056/41065_2020_127_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/5ee72d078c36/41065_2020_127_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/1ecaba7dde45/41065_2020_127_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/c4fdad6f1588/41065_2020_127_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/827ed8573315/41065_2020_127_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/2bc7b7139056/41065_2020_127_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/5ee72d078c36/41065_2020_127_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/1ecaba7dde45/41065_2020_127_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0728/7164164/c4fdad6f1588/41065_2020_127_Fig5_HTML.jpg

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