Understanding adaptation to high altitude in the Andean
region
For decades, research has been carried out to understand
adaptation of human populations to high altitude. A major goal has been to
compare how populations with a long history of residence at high altitude and
populations with no history of adaptation to high-altitude respond to hypoxia
(low oxygen concentration). This research aims to understand the role of natural
selection in the adaptation process, and the physiological pathways involved.
Two populations that have been commonly studied in this research are the Aymara
and Quechua form the Andean Plateau. These populations have been living at
high-altitude for more than 10,000 years. Numerous studies have been devoted to
the physiological patterns of adaptation to hypoxia of these populations. Many
of the aforementioned studies compare the physiological responses to hypoxia of
high-altitude natives (e.g. Aymara or Quechua) and low-altitude natives (e.g.
Europeans) living at high altitude. However, given the known history of
admixture between Europeans and Native Americans in this area, controlling for
admixture becomes a critical factor to elucidate the relative role of ancestry
vs. developmental influences in adaptation to high-altitude.
We have been collaborating for some time with two
researchers doing important work in this area. The research group of Lorna Moore, currently at Wake
Forest University, is focusing on understanding the effect of altitude-related
hypoxia on birth size, IntraUterine Growth Restriction (IUGR) and preeclampsia.
The research group of Tom Brutsaert at Syracuse University is doing research on pulmonary
function and work capacity phenotypes, such as forced vital capacity (FVC),
maximal oxygen consumption (VO2max), and arterial oxygen saturation (SaO2). We
are also interested in the possibility of applying admixture mapping in the near
future to understand the genetic factors involved in the phenotypic differences
observed between high-altitude vs. low-altitude populations.
