HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals

Background Acute 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. Methods In 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. Results In 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. Conclusions In 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.