EPAS1 and VEGFA gene variants are related to the symptoms of acute mountain sickness in Chinese Han population: a cross-sectional study

作     者：Ji-Hang Zhang Yang Shen Chuan Liu Jie Yang Yuan-Qi Yang Chen Zhang Shi-Zhu Bian Jie Yu Xu-Bin Gao Lai-Ping Zhang Jing-Bin Ke Fang-Zheng-Yuan Yuan Wen-Xu Pan Zhi-Nian Guo Lan Huang Ji-Hang Zhang;Yang Shen;Chuan Liu;Jie Yang;Yuan-Qi Yang;Chen Zhang;Shi-Zhu Bian;Jie Yu;Xu-Bin Gao;Lai-Ping Zhang;Jing-Bin Ke;Fang-Zheng-Yuan Yuan;Wen-Xu Pan;Zhi-Nian Guo;Lan Huang

作者机构：Institute of Cardiovascular DiseasesDepartment of CardiologyXinqiao HospitalArmy Medical UniversityChongqing 400037China 

出 版 物：《Military Medical Research》 (军事医学研究（英文版）)

年 卷 期：2021年第8卷第1期

页      面：25-36页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：support by the National Natural Science Foundation of China (81730054, 81873519) the Ministry of Health of China (201002012) Research Project of PLA (BLJ18J007) 

主　　题：Acute mountain sickness Hypoxia Single nucleotide polymorphism Endothelial PAS domain protein 1 Vascular endothelial growth factor 

摘      要：Background: More people ascend to high altitude(HA) for various activities, and some individuals are susceptible to HA illness after rapidly ascending from plains. Acute mountain sickness(AMS) is a general complaint that affects activities of daily living at HA. Although genomic association analyses suggest that single nucleotide polymorphisms(SNPs) are involved in the genesis of AMS, no major gene variants associated with AMS-related symptoms have been ***: In this cross-sectional study, 604 young, healthy Chinese Han men were recruited in June and July of 2012 in Chengdu, and rapidly taken to above 3700 m by plane. Basic demographic parameters were collected at sea level, and heart rate, pulse oxygen saturation(Sp O2), systolic and diastolic blood pressure and AMS-related symptoms were determined within 18–24 h after arriving in Lhasa. AMS patients were identified according to the latest Lake Louise scoring system(LLSS). Potential associations between variant genotypes and AMS/AMS-related symptoms were identified by logistic regression after adjusting for potential confounders(age, body mass index and smoking status).Results: In total, 320 subjects(53.0%) were diagnosed with AMS, with no cases of high-altitude pulmonary edema or high-altitude cerebral edema. Sp O2 was significantly lower in the AMS group than that in the non-AMS group(P=0.003). Four SNPs in hypoxia-inducible factor-related genes were found to be associated with AMS before multiple hypothesis testing correction. The rs6756667(EPAS1) was associated with mild gastrointestinal symptoms(P=0.013), while rs3025039(VEGFA) was related to mild headache(P=0.0007). The combination of rs6756667 GG and rs3025039 CT/TT further increased the risk of developing AMS(OR=2.70, P0.001).Conclusions: Under the latest LLSS, we find that EPAS1 and VEGFA gene variants are related to AMS susceptibility through different AMS-related symptoms in the Chinese Han population;this tool might be useful for screenin