Percent of oxygen saturation of arterial hemoglobin among Bolivian Aymara at 3,900–4,000 m

A range of variation in percent of oxygen saturation of arterial hemoglobin (SaO₂) among healthy individuals at a given high altitude indicates differences in physiological hypoxemia despite uniform ambient hypoxic stress. In populations native to the Tibetan plateau, a significant portion of the variance is attributable to additive genetic factors, and there is a major gene influencing SaO₂. To determine whether there is genetic variance in other high-altitude populations, we designed a study to test the hypothesis that additive genetic factors contribute to phenotypic variation in SaO₂ among Aymara natives of the Andean plateau, a population geographically distant from the Tibetan plateau and with a long, separate history of high-altitude residence. The average SaO₂ of 381 Aymara at 3,900–4,000 m was 92 ± 0.15% (SEM) with a range of 84–99%. The average was 2.6% higher than the average SaO₂ of a sample of Tibetans at 3,800–4,065 m measured with the same techniques. Quantitative genetic analyses of the Aymara sample detected no significant variance attributable to genetic factors. The presence of genetic variance in SaO₂ in the Tibetan sample and its absence in the Aymara sample indicate there is potential for natural selection on this trait in the Tibetan but not the Aymara population. Am J Phys Anthropol 108:41–51, 1999. © 1999 Wiley-Liss, Inc.