ArticleMolecular genetics & genomic medicine2020
HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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8 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Mountain sickness in altitude inhabitants of Latin America: A systematic review and meta-analysis.PloS one · 2024Pooled it
- Genome-wide association study reveals acute mountain sickness susceptibility in Chinese population.Molecular genetics and genomics : MGG · 2026Article
- Article
- Whole Genome Analysis Reveals Evolutionary History and Introgression Events in Bale Monkeys.Genes · 2024Article
- Establishing a prediction model of severe acute mountain sickness using machine learning of support vector machine recursive feature elimination.Scientific reports · 2023Article
- Caveolin-1 accelerates hypoxia-induced endothelial dysfunction in high-altitude cerebral edema.Cell communication and signaling : CCS · 2022Article
- Transcriptome Analysis of Rat Lungs Exposed to Moxa Smoke after Acute Toxicity Testing.Evidence-based complementary and alternative medicine : eCAM · 2021Article
- HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.Molecular genetics & genomic medicine · 2020Article
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5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcute mountain sickness (AMS) usually occurs among non-acclimated individuals after rapid ascending to high-altitude environments (generally ≥2,500 m). However, the precise molecular mechanism of AMS remains unclear. Our study aimed to investigate the relationship between several single nucleotide polymorphisms (SNPs) and AMS susceptibility.
methodsIn this work, sequencing data were obtained from 69 AMS patients and 95 matched acclimated Han Chinese individuals from southwest China. Five SNPs (rs1008438, rs150877473, rs1799983, rs2153364, and rs3025039) were systematically investigated in all the participants.
resultsIn our study, we found that allele frequencies of "A" (AMS 69.57% vs. non-AMS 54.74%) and "C" (AMS 30.43% vs. non-AMS 45.26%) in the HSPA1A gene rs1008438 were significantly different between the AMS and non-AMS groups (p = .01). Genotypes "CC" and "CA" of the HSPA1A gene (rs1008438) were associated with lower risk of developing AMS than the genotype "AA." Comparing the genotypes "CC + CA" and "AA," we also observed that the "CC + CA" genotype of rs1008438 was associated with lower AMS risk.
conclusionsIn our case-control study, there was a significant association between the rs1008348 polymorphism and AMS susceptibility, suggesting that this particular SNP might be a Han-specific risk factor for AMS. We believe that this study establishes a foundation for further elucidation of the genetic mechanisms underlying AMS.
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