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

  title={EPAS1 and VEGFA gene variants are related to the symptoms of acute mountain sickness in Chinese Han population: a cross-sectional study},
  author={Ji-hang Zhang and Yang Shen and Chuan Liu and Jie Yang and Yuanqi Yang and Chen Zhang and Shi-zhu Bian and Jie Yu and Xu-bin Gao and Laiping Zhang and Jingbin Ke and Fangzhengyuan Yuan and Wen-xu Pan and Zhinian Guo and Lan Huang},
  journal={Military Medical Research},
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. In this cross-sectional study, 604… 

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Genetic variants of endothelial PAS domain protein 1 are associated with susceptibility to acute mountain sickness in individuals unaccustomed to high altitude: A nested case-control study.

Findings indicate that EPAS1 SNPs play a role in the physiological effects of AMS, and these effects could be further evaluated as a therapeutic strategy to control acute hypoxia-related human diseases.

Associations between Vascular Endothelial Growth Factor Gene Polymorphisms and Susceptibility to Acute Mountain Sickness

The SNPs rs3025039 and rs30 25030 of the VEGF gene may be associated with a decreased risk of acute mountain sickness development, and this study investigated associations between polymorphisms in the vascular endothelial growth factor (VEGF) gene and susceptibility to acute Mountain sickness.

A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m.

It is suggested that future studies addressing the variation in the acute human hypoxia response should focus on objective responses to acuteHypoxia instead of AMS, because of the large influence of environmental factors.

A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m.

To identify genes related to AMS susceptibility, a genome-wide association study was used to simultaneously test associations between genetic variants dispersed throughout the genome and the presence and severity of AMS.

Vascular endothelial growth factor and acute mountain sickness

This study does not provide evidence in support of the theory that plasma VEGF correlates with symptoms of AMS, and comparison of sex, age, rate of ascent, pulse oximetry values, or history of altitude illness did not reveal significant differences between the AMS and non-AMS groups.

Variants of the Low Oxygen Sensors EGLN1 and HIF-1AN Associated with Acute Mountain Sickness

Analysis of single nucleotide polymorphisms in the untranslated regions of the EGLN1 and HIF-1AN genes and SNPs chosen from a genome-wide adaptation study of the Han Chinese population indicates that variants in the E GLN1 5'-UTR influence the susceptibility to AMS in aHan Chinese population.

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Using whole-exome sequencing, the high association of an EPAS1 (HIF2α) double variant in the oxygen degradation domain ofEPAS1 is reported in Angus cattle with HAPH, mean pulmonary artery pressure >50 mm Hg in two independent herds.

VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau

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No correlation between plasma levels of vascular endothelial growth factor or its soluble receptor and acute mountain sickness.

Data provide no evidence for a role of plasma VEGF and sFlt-1 in the pathophysiology of AMS, and do, however, not exclude paracrine effects of V EGF in the brain.

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