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The Genetics of Altitude Tolerance: The Evidence for Inherited Susceptibility to Acute Mountain Sickness

MacInnis, Martin J. BSc; Wang, Pei MSc; Koehle, Michael S. MD, PhD; Rupert, Jim L. PhD

Journal of Occupational and Environmental Medicine: February 2011 - Volume 53 - Issue 2 - p 159–168
doi: 10.1097/JOM.0b013e318206b112
Original Articles

Objective: Acute mountain sickness (AMS) has become a significant environmental health issue as improvements in transportation, “environmental tourism,” and resource development lure more people to the highlands. Whether there is a genetic contribution to AMS susceptibility is a central question in high-altitude medicine. This article provides a systematic review of the evidence supporting such an innate predisposition.

Methods: Scientific literature databases were screened using the terms “acute mountain sickness/AMS” and “altitude illness” combined with the terms “DNA,” “gene,” “genetic,” or “polymorphism.”

Results: Sixteen genes from a variety of pathways have been tested for association with AMS and variants in eight showed positive associations suggesting that AMS is an environmentally mediated polygenic disorder.

Conclusions: The data suggest that genotype contributes to capacity to rapidly and efficiently acclimatize to altitude; nevertheless, the mechanisms by which this occurs have yet to be elucidated.

From the School of Human Kinetics (Mr MacInnis, Ms Wang, and Drs Koehle and Rupert) and Allan McGavin Sport Medicine Centre, Department of Family Practice (Dr Koehle), University of British Columbia, Canada.

Jim Rupert, PhD, School of Human Kinetics, University of British Columbia, 6081 University Boulevard, Vancouver, BC V6T 1Z1, Canada; E-mail:

©2011The American College of Occupational and Environmental Medicine