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

作者：Jihang Zhang, Yang Shen, Chuan Liu, Jie Yang, Yuanqi Yang, Chen Zhang, Shizhu Bian, Jie Yu, Xubin Gao, Lai-Ping Zhang, Jingbin Ke, Fangzhengyuan Yuan, Wenxu Pan, Zhinian Guo, Lan Huang · 发表于：Military Medical Research · 年份：2020 · DOI：10.1186/s40779-020-00264-6 · 被引用次数：38 · 研究领域：High Altitude and Hypoxia、Neuroscience of respiration and sleep、Chronic Obstructive Pulmonary Disease (COPD) Research

Abstract 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 identified. Methods 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 (SpO 2 ), 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. SpO 2 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 ...