rs1008438
This is a regulatory region variant variant in the HSPA1A gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individualsAssociationN=164Zhicheng Liu et al.(2020)· Molecular Genetics & Genomic Medicine
This case-control study of 69 acute mountain sickness (AMS) patients and 95 matched acclimated Han Chinese individuals investigated five SNPs in hypoxia-related genes. The HSPA1A rs1008438 polymorphism showed a significant association with AMS susceptibility (OR = 0.36, 95% CI: 0.14–0.92 in the additive model), suggesting it may be a Han-specific genetic risk factor for AMS development.
About HSPA1A
This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]
View all HSPA1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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