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1 Anthropology, University at Albany, SUNY, Albany, NY, USA
2 Anthropology, University of Toronto, Missassauga, Toronto, Ontario, Canada
3 Anthropology, Pennsylvania State University, University Park, PA, USA
4 Ciencias Biologicas y Fisiologicas, Universidad Peruana Cayetano Heredia, Lima, Peru
* To whom correspondence should be addressed. E-mail: tbrutsae{at}csc.albany.edu.
Andean high altitude (HA) natives have a low (blunted) hypoxic ventilatory response (HVR), lower effective alveolar ventilation, and lower ventilation (VE) at rest and during exercise compared to acclimatized newcomers to HA. Despite blunted chemosensitivity and hypoventilation, Andeans maintain comparable arterial O2 saturation (SaO2). This study was designed to evaluate the influence of ancestry on these trait differences. At sea-level, we measured the HVR to both acute (HVR-A) and sustained (HVR-S) hypoxia in a sample of 32 male Peruvians of mainly Quechua and Spanish origins who were born and raised at sea-level. We also measured resting and exercise VE after 10-12 hours of exposure to altitude at 4,338 m. Native American ancestry proportion (NAAP) was assessed for each individual using a panel of 80 ancestry-informative molecular markers (AIMS). NAAP was inversely related to HVR-S after 10 minutes of isocapnic hypoxia (R=-0.36,P=0.04), but was not associated with HVR-A. In addition, NAAP was inversely related to exercise VE (R=-0.50, P=0.005) and ventilatory equivalent (VE/VO2, R=-0.51,P=0.004) measured at 4,338 m. Thus, Quechua ancestry may partly explain the well known blunted HVR (10, 35, 36, 57, 62) at least to sustained hypoxia, and the relative exercise hypoventilation at altitude of Andeans compared to European controls. Lower HVR-S and exercise VE could reflect improved gas exchange and/or attenuated chemoreflex sensitivity with increasing NAAP. Based on these ancestry associations, and based on the fact that developmental effects were completely controlled by study design, we suggest both a genetic basis and an evolutionary origin for these traits in Quechua.
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