The Association of the EGLN1 Gene with the High Aerobic Capacity (VO2max) of Nepali Sherpa at High-altitude

Tom Brutsaert (EX SCI) PI, Abigail Bigham (Anthropological Genetics at UCLA) co-I, and Taylor Harman (PhD Student – SU Anthropology), Other Personnel, CUSE Grant – Innovative & Interdisciplinary Research, 7/1/21-6/30/23.

There is compelling evidence that highland-native populations in the Himalayas (Sherpa,Tibetans) and the South American Andes (Quechua) are genetically adapted to chronic hypobaric hypoxia. For example, both population groups are tolerant to extreme high-altitude and show impressive physical work capacity in hypoxia. In Peruvian Quechua, we have identified several high frequency genetic markers that are associated with a significantly higher aerobic capacity (VO2max) at high-altitude. These markers were found in a gene known as EGLN1 which is a central component of the Hypoxia Inducible Factor (HIF) pathway. The HIF-pathway regulates the cellular response to hypoxia. In this CUSE grant, we will seek to replicate our Peruvian findings by collecting DNA and measuring VO2max in n=70 Sherpa highlanders at 4,240 m altitude in Nepal.