31.High-Altitude Diseases: The Implications of Genes, Genetics and Drugs

摘要

High-altitude (HA) is characterized as one of the extreme environmental conditions on this planet. The chronic or acute exposure to such environment may lead an individual to various HA diseases. Although the immediate physiological responses constructively shape an individual to adapt to the hypoxic environment, there are people genetically predisposed for better performance to such conditions. Although the idea of comparing such inter-individual variation at the DNA level is classical, only few empirical studies have succeeded in documenting causal links between molecular variation and its therapeutic applications e.g. for pharmacogenetic studies evaluating the influence of sequence variations on drug response. Here we review candidate genes encoding drug target receptors or enzymes, projected to prevent HA disease, simultaneously highlighting high-altitude pulmonary edema as an example. We include comments about interactions between genetic variants and its therapeutic entity, as well as its selective role among native population. By giving adequate consideration on the pharmacogenetic issues, the foremost objective of the present review is to advance our understanding onto individual drug-response to the drugs used, to treat HA diseases and to develop strategies for HA genetic predisposition.