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Spanish genetic admixture is associated with larger O_{2 max} decrement from sea level to 4,338 m in Peruvian Quechua

¹Department of Anthropology, The University at Albany, State University of New York, Albany, New York 12222; ²Department of Anthropology, University of Toronto at Mississauga, Mississauga, Ontario, Canada L5L 1C6; ³Department of Anthropology, The Pennsylvania State University, University Park, Pennsylvania 16804; ⁴Departamento de Ciencias Biológicas y Fisiológicas, Universidad Peruana Cayetano Heredia, San Martin de Porras, Peru; and ⁵Instituto Boliviano de Biologia de Altura, Casilla 717, La Paz, Bolivia

Submitted 27 November 2002 ; accepted in final form 7 April 2003

Quechua in the Andes may be genetically adapted to altitude and able to resist decrements in maximal O₂ consumption in hypoxia (O_{2 max}). This hypothesis was tested via repeated measures of O_{2 max} (sea level vs. 4,338 m) in 30 men of mixed Spanish and Quechua origins. Individual genetic admixture level (%Spanish ancestry) was estimated by using ancestry-informative DNA markers. Genetic admixture explained a significant proportion of the variability in O_{2 max} after control for covariate effects, including sea level O_{2 max} and the decrement in arterial O₂ saturation measured at O_{2 max} (Sp_{O2 max}) (R² for admixture and covariate effects 0.80). The genetic effect reflected a main effect of admixture on O_{2 max} (P = 0.041) and an interaction between admixture and Sp_{O2 max} (P = 0.018). Admixture predicted O_{2 max} only in subjects with a large Sp_{O2 max} (P = 0.031). In such subjects, O_{2 max} was 12–18% larger in a subgroup of subjects with high vs. low Spanish ancestry, with least squares mean values (±SE) of 739 ± 71 vs. 606 ± 68 ml/min, respectively. A trend for interaction (P = 0.095) was also noted between admixture and the decrease in ventilatory threshold at 4,338 m. As previously, admixture predicted O_{2 max} only in subjects with a large decrease in ventilatory threshold. These findings suggest that the genetic effect on O_{2 max} depends on a subject's aerobic fitness. Genetic effects may be more important (or easier to detect) in athletic subjects who are more likely to show gas-exchange impairment during exercise. The results of this study are consistent with the evolutionary hypothesis and point to a better gas-exchange system in Quechua.

deoxyribonucleic acid; genetic markers; aerobic performance; Andes; hypoxia; altitude

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