ABSTRACT
During the past several decades, efforts to link differences in the genetic code with an individual's physiology have yielded important insights for human health and disease. Within the past decade, studies of high altitude genetics have sought to determine how variations in DNA underlie physiological differences between and within individuals who encounter the same environmental stress of high altitude hypoxia. Recent analyses of -omic-level signals (e.g., the evaluation of gene expression through transcriptomics and/or epigenomics; proteomics and metabolomics) in both chronic and acute high altitude exposure provide an additional layer of information regarding the genetic pathways involved in responses to hypoxia and promising insights into generational and short-term responses at high altitude. Some of the first genetic analyses in highlanders examined polymorphisms in “candidate” genes—single genes that were hypothesized to harbor specific polymorphisms that contribute to the variation in traits observed within and between populations at altitude.
