ArticleInternational journal of molecular sciences2014
Variants of the low oxygen sensors EGLN1 and HIF-1AN associated with acute mountain sickness.
Article in International journal of molecular sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 26 citations in OpenAlex.
- Evaluation of colour vision impairment during acute hypobaric hypoxia in aviation medicine: a randomized controlled trial.The journal of physiological sciences : JPS · 2024Trial
- Effects of acetazolamide combined with remote ischemic preconditioning on risk of acute mountain sickness: a randomized clinical trial.BMC medicine · 2024Trial
- Genome-Wide Analysis of Copy Number Variation in Vietnamese Local Chickens.Animals : an open access journal from MDPI · 2026Article
- Altitude hypoxia and hypoxemia: pathogenesis and management.Signal transduction and targeted therapy · 2026Review
- Article
- [Status of Research on Molecular Mechanisms and Management of Acute Mountain Sickness].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Review
- Antioxidant Capacity, Enzyme Activities Related to Energy Metabolism, and Transcriptome Analysis ofAntioxidants (Basel, Switzerland) · 2024Article
- Transcriptomic signatures of severe acute mountain sickness during rapid ascent to 4,300 m.Frontiers in physiology · 2024Article
- Molecular Mechanisms of High-Altitude Acclimatization.International journal of molecular sciences · 2023Review
- Prediction of High-Altitude Cardiorespiratory Fitness Impairment Using a Combination of Physiological Parameters During Exercise at Sea Level and Genetic Information in an Integrated Risk Model.Frontiers in cardiovascular medicine · 2021Article
- Differences in Tolerance to Hypoxia: Physiological, Biochemical, and Molecular-Biological Characteristics.Biomedicines · 2020Review
- HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.Molecular genetics & genomic medicine · 2020Article
- EPAS1 and VEGFA gene variants are related to the symptoms of acute mountain sickness in Chinese Han population: a cross-sectional study.Military Medical Research · 2020Article
- Hypoxic-inflammatory responses under acute hypoxia: In Vitro experiments and prospective observational expedition trial.International journal of molecular sciences · 2020Observational
- Association ofBioMed research international · 2020Article
- Association Between Single Nucleotide Polymorphisms in PPARA and EPAS1 Genes and High-Altitude Appetite Loss in Chinese Young Men.Frontiers in physiology · 2019Article
- Interactions between RASA2, CADM1, HIF1AN gene polymorphisms and body fatness with breast cancer: a population-based case-control study in China.Oncotarget · 2017Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two low oxygen sensors, Egl nine homolog 1 (EGLN1) and hypoxia-inducible factor 1-α inhibitor (HIF-1AN), play pivotal roles in the regulation of HIF-1α, and high altitude adaption may be involved in the pathology of acute mountain sickness (AMS). Here, we aimed to analyze single nucleotide polymorphisms (SNPs) 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. To assess the association between EGLN1 and HIF-1AN SNPs and AMS in a Han Chinese population, a case-control study was performed including 190 patients and 190 controls. In total, thirteen SNPs were genotyped using the MassARRAY® MALDI-TOF system. Multiple genetic models were tested; The Akaike's information criterion (AIC) and Bayesian information criterion (BIC) values indicated that the dominant model may serve as the best-fit model for rs12406290 and rs2153364 of significant difference. However, these data were not significant after Bonferroni correction. No significant association was noted between AMS and rs12757362, rs1339894, rs1361384, rs2009873, rs2739513 or rs2486729 before and after Bonferroni correction. Further haplotype analyses indicated the presence of two blocks in EGLN1; one block consists of rs12406290-rs2153364, located upstream of the EGLN1 gene. Carriers of the "GG" haplotype of rs12406290-rs2153364 exhibited an increased risk of AMS after adjustments for age and smoking status. However, no significant association was observed among HIF-1AN 3'-untranslated region (3'-UTR) polymorphisms, haplotype and AMS. Our study indicates that variants in the EGLN1 5'-UTR influence the susceptibility to AMS in a Han Chinese population.
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