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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(SpO2),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.SpO2 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,P＜0.001).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 screening susceptible populations and predicting clinical symptoms leading to AMS before an individual reaches HA.