Association of EGLN1 gene with high aerobic capacity of Peruvian Quechua at high altitude

Abigail W. Bigham, Tom D. Brutsaert, Melisa Kiyamu, Gianpietro Elias Revollendo, Jenna L. Isherwood, Frank S. Lee, Maria Rivera-Ch., Fabiola Leon-Velarde & Sudipta Ghosh
Highland native Andeans have resided at altitude for millennia. They display high aerobic capacity (VO2max) at altitude and this may be a reflection of genetic adaptation to chronic hypoxia. Previous genome-wide (GW) scans for natural selection have nominated EGLN1 as a candidate gene. The encoded protein, EGLN1/PHD2, is an O2 sensor that controls levels of the Hypoxia Inducible Factor-a (HIF-a), which regulates the cellular response to hypoxia. From GWAS and ANCOVA performed on a total...
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