文献类型：期刊文献

英文题名：The role of EPAS1 polymorphisms on COPD susceptibility in southern Chinese

作者：Wang, Yunchao[1];Lin, Ao[2];He, Ruiqi[1];Chen, Cuiyi[3];Zeng, Xiaobin[2];Pan, Yujie[2];Mao, Chun[2];Xie, Chenli[4];Huang, Dongsheng[5];Deng, Yibin[6];Zhang, Xuhui[7];Lu, Jiachun[2];Wang, Xinhua[1,8]

第一作者：Wang, Yunchao

通信作者：Wang, XH[1]

机构：[1]Gansu Univ Chinese Med, Inst Basic Med, Inst Publ Hlth, Lanzhou 730030, Gansu, Peoples R China;[2]Guangzhou Med Univ, Affiliated Hosp 1, Inst Publ Hlth, State Key Lab Resp Dis, Guangzhou 510000, Guangdong, Peoples R China;[3]SSL Cent Hosp Dongguan City, Dept Resp Med, Dongguan 523000, Guangdong, Peoples R China;[4]Dongguan Binwan Cent Hosp, Dept Resp & Crit Care Med, Dongguan 523000, Guangdong, Peoples R China;[5]Shenzhen Longhua Dist Cent Hosp, Dept Resp & Crit Care Med, Shenzhen 515100, Guangdong, Peoples R China;[6]Youjiang Med Univ Nationalities, Ctr Med Lab Sci, Affiliated Hosp, Baise 533000, Guangxi, Peoples R China;[7]Gansu Univ Chinese Med, Dept Resp Med, Affiliated Hosp, Lanzhou 730000, Gansu, Peoples R China;[8]Gansu Univ Chinese Med, Inst Basic Med, Inst Publ Hlth, 35 Dingxi East Rd, Lanzhou 730030, Gansu, Peoples R China

第一机构：甘肃中医药大学

通信机构：[1]corresponding author), Gansu Univ Chinese Med, Inst Basic Med, Inst Publ Hlth, 35 Dingxi East Rd, Lanzhou 730030, Gansu, Peoples R China.|[10735]甘肃中医药大学;

年份：2023

卷号：9

期号：10

外文期刊名：HELIYON

收录：;WOS:【SCI-EXPANDED(收录号:WOS:001113758800001)】；

基金：This work was supported by the following grants: National Key Research and Development Project of China [grant number 2017YFC0907202] ; National Natural Science Foundation of China [grant number 81872694, 82173609, 81460123, 82260889] ; Local Innovative and Research Teams Project of Guangdong Pearl River Talents Program [grant number 2017BT01S155] ; Guangdong Medical Science and Technology Research Fund Project [grant number A2020324] ; Guangxi Natural Foundation [grant number 2018GXNSFAA281187] ; the Science and Technology Project of Guangzhou [grant number 202103000073] .

语种：英文

外文关键词：COPD; EPAS1; Polymorphism; Susceptibility; Absolute risk

摘要：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 preFEV1/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.