title: Effects of birthplace and individual genetic admixture on lung volume and exercise phenotypes of Peruvian Quechua.
abstract: Forced vital capacity (FVC) and maximal exercise response were measured in two populations of Peruvian males (age, 18-35 years) at 4,338 m who differed by the environment in which they were born and raised, i.e., high altitude (Cerro de Pasco, Peru, BHA, n = 39) and sea level (Lima, Peru, BSL, n = 32). BSL subjects were transported from sea level to 4,338 m, and were evaluated within 24 hr of exposure to hypobaric hypoxia. Individual admixture level (ADMIX, % Spanish ancestry) was estimated for each subject, using 22 ancestry-informative genetic markers and also by skin reflectance measurement (MEL). Birthplace accounted for the approximately 10% larger FVC (P < 0.001), approximately 15% higher maximal oxygen consumption (VO(2)max, ml.min(-1).kg(-1)) (P < 0.001), and approximately 5% higher arterial oxygen saturation during exercise (SpO(2)) (P < 0.001) of BHA subjects. ADMIX was low in both study groups, averaging 9.5 +/- 2.6% and 2.1 +/- 0.3% in BSL and BHA subjects, respectively. Mean underarm MEL was significantly higher in the BSL group (P < 0.001), despite higher ADMIX. ADMIX was not associated with any study phenotype, but study power was not sufficient to evaluate hypotheses of genetic adaptation via the ADMIX variable. MEL and FVC were positively correlated in the BHA (P = 0.035) but not BSL (P = 0.335) subjects. However, MEL and ADMIX were not correlated across the entire study sample (P = 0.282). In summary, results from this study emphasize the importance of developmental adaptation to high altitude. While the MEL-FVC correlation may reflect genetic adaptation to high altitude, study results suggest that alternate (environmental) explanations be considered.
authors.affiliation: Department of Anthropology, State University of New York at Albany, Albany, New York 12222, USA. tbrutsae@csc.albany.edu
authors.forename: Tom D
authors.initials: TD
authors.lastname: Brutsaert
authors.forename: Esteban
authors.initials: E
authors.lastname: Parra
authors.forename: Mark
authors.initials: M
authors.lastname: Shriver
authors.forename: Alfredo
authors.initials: A
authors.lastname: Gamboa
authors.forename: Jose-Antonio
authors.initials: JA
authors.lastname: Palacios
authors.forename: Maria
authors.initials: M
authors.lastname: Rivera
authors.forename: Ivette
authors.initials: I
authors.lastname: Rodriguez
authors.forename: Fabiola
authors.initials: F
authors.lastname: León-Velarde
mesh_terms: D000064:Acclimatization / Q000235:genetics* / Q000502:physiology*; D000293:Adolescent; D000328:Adult; D000531:Altitude; D000886:Anthropometry; D004777:Environment; D015444:Exercise / Q000502:physiology*; D006801:Humans; D008168:Lung / Q000502:physiology*; D008176:Lung Volume Measurements; D008297:Male; D008957:Models, Genetic; D010101:Oxygen Consumption / Q000502:physiology; D010568:Peru; D010641:Phenotype; D012111:Residence Characteristics; D014797:Vital Capacity / Q000235:genetics / Q000502:physiology