The role of EPAS1 polymorphisms on COPD susceptibility in southern Chinese

Yunchao Wang; Ao Lin; Ruiqi He; Cuiyi Chen; Xiaobin Zeng; Yujie Pan; Chun Mao; Chenli Xie; Dongsheng Huang; Yibin Deng; Xuhui Zhang; Jiachun Lu; Xinhua Wang

doi:10.1016/j.heliyon.2023.e20226

The role of EPAS1 polymorphisms on COPD susceptibility in southern Chinese

Heliyon. 2023 Sep 23;9(10):e20226. doi: 10.1016/j.heliyon.2023.e20226. eCollection 2023 Oct.

Authors

Yunchao Wang¹, Ao Lin², Ruiqi He¹, Cuiyi Chen³, Xiaobin Zeng², Yujie Pan², Chun Mao², Chenli Xie⁴, Dongsheng Huang⁵, Yibin Deng⁶, Xuhui Zhang⁷, Jiachun Lu², Xinhua Wang¹

Affiliations

¹ Institute of Basic Medicine, Institute of Public Health, Gansu University of Chinese Medicine, Lanzhou, Gansu Province, 730030, China.
² The State Key Lab of Respiratory Disease, The First Affiliated Hospital, Institute of Public Health, Guangzhou Medical University, Guangzhou, Guangdong Province, 510000, China.
³ Department of Respiratory Medicine, SSL Central Hospital of Dongguan City, Dongguan, Guangdong Province, 523000, China.
⁴ Department of Respiratory and Critical Care Medicine, Dongguan Binwan Central Hospital, Dongguan, Guangdong Province, 523000, China.
⁵ Department of Respiratory and Critical Care Medicine, Shenzhen Longhua District Central Hospital, Shenzhen, Guangdong Province, 515100, China.
⁶ Centre for Medical Laboratory Science, The Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi Province, 533000, China.
⁷ Department of Respiratory Medicine, Affiliated Hospital of Gansu University of Chinese Medicine, Lanzhou, Gansu Province, 730000, China.

Abstract

Objective: COPD is the most common chronic respiratory disease with complex environmental and genetic etiologies. It was reported that EPAS1 might participate in the occurrence and development of respiratory diseases. However, the association between EPAS1 and COPD was unclear.

Methods: First, a case-control study enrolling 1130 COPD patients and 1115 healthy controls in Guangzhou was conducted to clarify the association between EPAS1 polymorphisms and COPD susceptibility. Secondly, a prevalence study recruited 882 participants in Gansu to verify the effect of positive polymorphisms on lung function. Finally, the 10-year absolute risk considering environmental factors and genetic variations was calculated by the method of Gail and Bruzzi.

Results: EPAS1 rs13419896 AA genotype reduced COPD risk in southern Chinese (AA vs. GG: adjusted OR = 0.689, 95% CI = 0.498-0.955; AA vs. GG/GA: adjusted OR = 0.701, 95% CI = 0.511-0.962). Further, the rs13419896 A allele was significantly associated with higher pre-FEV1/pre-FVC in both the Guangzhou and Gansu populations (P < 0.05). Smoking status, coal as fuels, education level, and rs13419896 G > A were finally retained to develop a relative risk model for males. Smoking status, biomass as fuels, and rs13419896 G > A were retained in the female model. The population-attributable risk of the male or female model was 0.457 (0.283-0.632) and 0.421 (0.227-0.616), respectively.

Conclusions: This study first revealed that EPAS1 rs13419896 G > A decreased COPD susceptibility and could be a genetic marker to predict the 10-year absolute risk for COPD.

Keywords: Absolute risk; COPD; EPAS1; Polymorphism; Susceptibility.