| Summary: | Objective To identify novel genes and pathways associated with acute mountain sickness (AMS). Background The uniform, rapid transfer of adults from McMurdo Station (sea level, SL) in Antarctica to the South Pole (SP, 2835m) provides a unique opportunity to study changes in gene expression related to the body's adaptation to hypobaric hypoxia. Methods Venous blood was drawn at SL and after 2 d at SP in 98 subjects (age 37±9 y, 70% male). Peripheral blood mononuclear cells (PBMCs) were isolated and microarray analysis of the mRNA isolated from these cells was performed (Affymetrix HG U133 Plus 2 microarray chip). Analysis and the computation of expression fold changes and phenotypic regression were performed using the Bioconductor package in R. Pathway analysis was performed using MetaCore™. Results ~3200 probe sets with sig. p‐values (p<0.05) and fold changes for each subject were used in a binary logistic regression with the presence or absence of AMS during the 2 d at altitude. Corresponding p‐values and z‐values were entered into MetaCore™ for pathways analysis. Identified pathways included smooth muscle contraction, calcium signaling, and acetylcholine regulation of nerve impulses. Conclusions Probe sets associated with the presence of AMS had a significant representation in pathways involving aspects of the autonomic nervous system including smooth muscle contraction and nerve signaling. NSF B‐179‐M.
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