文献类型：期刊文献

英文题名：PPARA Gene Polymorphisms and Their Association with COPD in Tibetan and Han from Gansu, China

作者：Gao, Renjie[1];Zhang, Miao[1];Zhang, Yangjie[1];Wang, Yunchao[2];Yang, Zhen[1];Lin, Ao[3,4];Wu, Yanlin[5];Wang, Xinhua[1]

第一作者：Gao, Renjie

通信作者：Wang, XH[1];Wu, YL[2]

机构：[1]Gansu Univ Chinese Med, Sch Publ Hlth, Lanzhou 730000, Gansu, Peoples R China;[2]Gansu Univ Chinese Med, Sch Basic Med, Lanzhou, Gansu, Peoples R China;[3]Guangzhou Med Univ, Affiliated Hosp 1, Dept Thorac Surg, Guangzhou, Guangdong, Peoples R China;[4]Guangzhou Med Univ, Sch Publ Hlth, Guangzhou, Guangdong, Peoples R China;[5]Gansu Univ Chinese Med, Affiliated Hosp, Dept Pulm Dis, Lanzhou 730000, Gansu, Peoples R China

第一机构：甘肃中医药大学公共卫生学院

通信机构：[1]corresponding author), Gansu Univ Chinese Med, Sch Publ Hlth, Lanzhou 730000, Gansu, Peoples R China;[2]corresponding author), Gansu Univ Chinese Med, Affiliated Hosp, Dept Pulm Dis, Lanzhou 730000, Gansu, Peoples R China.|[10735b845793de6ae2b30]甘肃中医药大学第二附属医院;[10735]甘肃中医药大学;[10735e9d5e7087247e71b]甘肃中医药大学公共卫生学院;

年份：2026

卷号：21

外文期刊名：INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE

收录：;WOS:【SCI-EXPANDED(收录号:WOS:001769353200001)】；

基金：This study was supported by the Major Project of the Gansu Provincial Joint Research Fund (23JRRA1520) , the Lanzhou Major Project (HXLH-JBGS03) , and the 2025 Open Fund Project of the Collaborative Innovation Center for Traditional Chinese Medicine Prevention and Control of Nutrition-and Environment-Related Diseases in Northwest China (ZYXT-25-9) .

语种：英文

外文关键词：chronic obstructive pulmonary disease; PPARA; single nucleotide polymorphism; ethnicity

摘要：Background: Chronic Obstructive Pulmonary Disease (COPD) is influenced by both genetic and environmental factors, with chronic hypoxia playing a pivotal role in its pathogenesis. Peroxisome proliferator-activated receptor alpha (PPARA), a core regulator of the hypoxia pathway, exhibits genetic differentiation in high-altitude populations. This study aimed to investigate the association between PPARA gene polymorphisms and COPD susceptibility in Tibetan and Han populations in Gansu Province. Methods: A case-control study design was employed. A total of 1276 participants (399 Tibetans and 877 Han Chinese) were recruited from Gansu province. Using Haploview software, four tag SNPs of the PPARA gene (rs135538, rs135539, rs135549, rs4253758) were selected. Genotyping was performed using the iMLDR (Improved Multiple Ligase Detection Reaction) multiplex SNP genotyping technique. Results: In the Tibetan population, the rs135539A>C polymorphism under a dominant model was associated with an increased risk of COPD (CC+CA vs. AA: OR = 1.779, 95% CI: 1.080-2.903, P=0.024). In the Han population, rs135549T>C under a dominant model was associated with a reduced COPD risk (CC+CT vs. TT: OR = 0.719, 95% CI: 0.547-0.944, P = 0.017). The rs4253758T>C SNP exhibited a dual effect in Han Chinese: under an additive model, both TC (OR = 1.722, 95% CI: 1.504-2.813, P = 0.030) and CC (OR = 1.778, 95% CI: 1.083-2.922, P = 0.023) genotypes increased risk compared to the TT genotype. However, under a recessive model, the CC genotype was protective compared to TT+TC (OR = 0.572, 95% CI: 0.356-0.918, P = 0.021). No significant associations were found for other SNPs. Conclusion: PPARA gene polymorphisms are associated with COPD susceptibility in a population-specific manner among Tibetan and Han populations in Gansu. The rs135539A>C variant increases COPD risk in Tibetans, whereas rs135549T>C and rs4253758T>C exert protective and dual effects, respectively, in the Han population.