IMR Press / FBL / Volume 29 / Issue 1 / DOI: 10.31083/j.fbl2901018
Open Access Original Research
A Case-Control Study of the Associations between EGLN1 Gene Polymorphisms and COPD
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1 Institute of Public Health, Gansu University of Chinese Medicine, 730000 Lanzhou, Gansu, China
2 Alxa League Central Hospital, 750300 Alxa League, Inner Mongolia Autonomous Region, China
3 Institute of Basic Medicine, Institute of Public Health, Gansu University of Chinese Medicine, 730000 Lanzhou, Gansu, China
4 Department of Respiratory Medicine, Affiliated Hospital of Gansu University of Chinese Medicine, 730000 Lanzhou, Gansu, China
5 The State Key Lab of Respiratory Disease, The First Affiliated Hospital, Institute of Public Health, Guangzhou Medical University, 511436 Guangzhou, Guangdong, China
*Correspondence: yunchaow@163.com (Yunchao Wang); wxh@gszy.edu.cn (Xinhua Wang)
Front. Biosci. (Landmark Ed) 2024, 29(1), 18; https://doi.org/10.31083/j.fbl2901018
Submitted: 7 September 2023 | Revised: 3 November 2023 | Accepted: 22 November 2023 | Published: 17 January 2024
Copyright: © 2024 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.
Abstract

Background: Environmental and genetic factors are jointly involved in the development of chronic obstructive pulmonary disease (COPD). The EGLN1 gene is a major factor in upstream regulation of the hypoxia-inducible pathway. EGLN1 negatively regulates the hypoxia-inducible factors HIF-lα and HIF-2α by regulating the concentration of oxygen, mainly in a hypoxic environment. Hypoxia is a common physiologic condition during the progression of COPD, and several studies have identified genetic variants in EGLN1 as a key factor in the adaptation to hypoxic environments. However, it is still unclear whether there is an association between EGLN1 variants and the risk of developing COPD. Methods: A case-control study was conducted in the Gannan Tibetan Autonomous Prefecture, Gansu Province. A total of 292 COPD patients and 297 healthy controls were enrolled to assess the association of EGLN1 single nucleotide polymorphisms (SNPs) (rs41303095 A>G, rs480902 C>T, rs12097901 C>G, rs2153364 G>A) with COPD susceptibility. Results: The EGLN1 rs41303095 A>G, rs480902 C>T, rs12097901 C>G, and rs2153364 G>A polymorphisms were not associated with COPD susceptibility (p > 0.05). Conclusions: The EGLN1 rs41303095 A>G, rs480902 C>T, rs12097901 C>G and rs2153364 G>A polymorphisms were found in this study not to be associated with susceptibility to COPD in Gannan Tibetans.

Keywords
COPD
EGLN1
polymorphism
susceptibility
Funding
2022CYZC-53/Fund project of Gansu Provincial Department of Education
National Key Research and Development Program Project of Gansu Urban
2017YFC0907202/Rural Natural Population Cohort Construction and Tumor Follow-up Research
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