文献类型：期刊文献

中文题名：氧敏感基因EGLN1与COPD的发病机制

英文题名：Oxygen sensitive gene EGLN1 and pathogenesis of COPD

作者：余静[1];王云超[2];张春艳[1];王啟秀[1];王新华[1]

第一作者：余静

机构：[1]甘肃中医药大学公共卫生学院,兰州73000;[2]甘肃中医药大学基础医学院,兰州730000

第一机构：甘肃中医药大学公共卫生学院

年份：2022

卷号：42

期号：7

起止页码：1263

中文期刊名：生命的化学

外文期刊名：Chemistry of Life

收录：CSTPCD

基金：国家重点研发计划“精准医学研究”重点专项(2017YFC0907202)。

语种：中文

中文关键词：EGLN1;COPD;氧敏感基因;遗传变异

外文关键词：EGLN1;COPD;oxygen sensitive gene;genetic variation

摘要：慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)的发生发展是环境和遗传因素交互作用产生的结果,成因复杂。COPD患者的症状与正常人长期暴露于高海拔低氧环境下的症状相似,氧感知通路的发现也证实了氧敏感相关基因在低氧环境暴露下的作用。EGLN1编码的脯氨酸羟化酶作为氧感知通路的核心氧感受器,能够直接感受氧分压;同时,EGLN1基因被抑制时,能够促进EPO、VEGF以及一些炎症基因的表达,导致弹性蛋白酶失衡以及炎症反应,进而加剧COPD的发生发展。本文系统阐述了EGLN1与COPD发病风险的研究进展,旨在对EGLN1在COPD发展过程中的表达调控作用进行进一步探讨,从而拟对高海拔地区COPD相关危险因素研究以及遗传标记物研究提供新的思路。
The occurrence and development of COPD is result from the interaction of environmental and genetic factors. Studies have shown that the symptoms of COPD patients are similar to those of normal people who are exposed to high altitude and low oxygen environment for a long time. And the discovery of oxygen sensing pathway has also confirmed that the role of oxygen sensitivities related genes in low oxygen environment exposure. EGLN1-encoded proline hydroxylase, acted as the core oxygen receptor in oxygen sensing pathway, could directly sense oxygen partial pressure. At the same time, when the EGLN1 gene is inhibited, it can promote the expression of EPO, VEGF and some inflammatory genes, leading to the imbalance of elastase and inflammatory response, which further aggravate the occurrence and development of COPD. This paper systematically elaborated the research progress of EGLN1 and the risk of COPD, aiming to further explore the regulatory role of EGLN1 expression in the development of COPD, so as to provide new ideas for the study of COPD related risk factors and genetic markers in high altitude areas.