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J Appl Physiol (April 11, 2003). doi:10.1152/japplphysiol.01088.2002
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Submitted on November 27, 2002
Accepted on April 7, 2003

Spanish genetic admixture is associated with larger VO2max decrement from sea level to 4,338 meters in Peruvian Quechua

Tom D Brutsaert1*, Esteban J Parra2, Mark D Shriver3, Alfredo Gamboa4, Jose-Antonio Palacios4, Maria Rivera4, Ivette Rodriquez5, and Fabiola Leon-Velarde4

1 Department of Anthropology, The University at Albany, SUNY, Albany, NY, USA
2 Department of Anthropology, University of Toronto, Missassauga, Ontario, Canada
3 Department of Anthropology, The Pennsylvania State University, University Park, PA, USA
4 Departamento de Ciencias Biologicas y Fisiologicas, Universidad Peruana Cayetano Heredia, Lima, Peru
5 Department of Anthropology, The Pennsylvania State University, University Park, PA, USA; Instituto Boliviano de Biologia de Altura, La Paz, Bolivia

* To whom correspondence should be addressed. E-mail: tbrutsae{at}csc.albany.edu.

Quechua natives of the highland Andes may be genetically adapted to high altitude and thus able to resist decrements in maximal O2 consumption in hypoxia ({Delta}VO2max). This evolutionary hypothesis was tested via the repeated measures of VO2max (sea level versus 4,338m) in 30 young male Peruvians of mixed Spanish and Quechua origins. Genetic admixture level (% Spanish ancestry) was estimated on each individual using a panel of 22 ancestry-informative DNA markers. Genetic admixture explained a significant proportion of the variability in {Delta}VO2max after control for major covariate effects including sea level VO2max and the decrement in arterial O2 saturation measured at VO2max ({Delta}SPO2max) (R2 for admixture and covariate effects ~0.80). The genetic effect reflected a main effect of admixture on {Delta}VO2max (P=0.041), as well as the interaction between admixture and {Delta}SpO2max (P=0.018). Admixture was predictive of {Delta}VO2max only in subjects with a large {Delta}SpO2max at 4,338 m (P=0.031). In such subjects, {Delta}VO2max was 12-18% larger in the highest versus lowest subgroup of Spanish genetic ancestry, with least square mean values (±S.E.) of 739±71 ml.min-1 versus 606±68 ml.min-1 (11.1±1.3 ml.min-1.kg-1 versus 9.7±1.3 ml.min-1.kg-1), respectively. A suggestive trend for interaction (P=0.095) was also noted between admixture and the decrease in ventilatory threshold at 4,338 m ({Delta}VEthresh). Similar to the previous interaction, admixture was predictive of {Delta}VO2max only in subjects with a large {Delta}VEthresh. Together, these interactions suggest that the putative genetic effect on {Delta}VO2max depends on a subjects' aerobic fitness level. In particular, genetic effects may be more important (or easier to detect) in very athletic subjects who are more likely to show gas exchange impairment during exercise. In summary, the results of this study are consistent with the evolutionary hypothesis, and point to a better gas exchange system in Quechua as a possible explanation for the admixture effect detected.




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