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Individual responses to hypoxia 

Signals of genetic adaptation to high altitude that our group and others identified are among the strongest in the human genome. Several of these genetic factors are related to oxygen sensing and response and are linked to important physiological traits. For example, some of the top selection candidate genes reported in humans are associated with relatively lower hemoglobin concentration in Tibetan populations. Our studies of Andean highlanders suggest some of these same genetic pathways exhibit similar adaptive signatures, yet many of the potentially functional variants appear to be distinct. These findings highlight the importance of understanding individual variation in human responses to hypoxia inherent to various disease states (e.g., cardiopulmonary disease, sleep apnea) and functional insights crucial to personalized medicine.

Our current work aims to determine:

  1. the physiological relevance of adaptations and maladaptation to high altitude,
  2. whether physiological variation (e.g., exercise capacity, specific oxygen transport components, intermittent hypoxia during sleep) are related to epigenetic and/or adaptive genetic factors, and
  3. how these insights relate to natural variation underlying hypoxia responses in health and disease.