High Risk: Admixture/migrant based study approach to evaluate oxygen transport in Andean high altitude natives

Suny At Albany, Albany NY

Investigators

Abstract

This is an exploratory research project to investigate the unique physiological characteristics of high altitude native populations in the Andes. An enduring question is the extent to which characteristics (such as large lung volume) are genetic, as the result of natural selection, or developmental, as the result of lifelong exposure to HA. Many previous studies have had the goal to partition genetic from developmental effects in this regard, but with varying success. In the present study we will apply a novel approach with this basic goal in mind. The approach might be termed an admixture/migrant study design because it takes advantage of two fundamental realities in the Andes. First, the majority of current Andeans are the admixed descendents of both European and Amerindian populations. Second, current populations reside not only at high altitude, but also as recent migrants to large urban centers near sea-level. If matched groups of highland and lowland born subjects are compared, this may allow us to better understand how lifelong altitude exposure affects physiology. Further, if admixture rates are estimated for each individual within a group, then we may better understand how genetics and natural selection have affected physiology. By quantifying both effects, we can explicitly test the idea that gene and environment interact to produce a given characteristic. In collaboration with the Universidad Cayetano, Lima, Peru, we will measure pulmonary function and maximal oxygen consumption (VO2max) in at least 25 lowland born subjects in Lima (sea level) and also at Cerro de Pasco, Peru (4,300 m). In Cerro de Pasco, we will perform the same measurements on at least 25 highland born subjects. A blood sample will be used to determine admixture rate based on a panel of informative genetic markers developed for this purpose. This study should provide crucial information regarding the feasibility of this promising new approach.