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

ABSTRACT: Highland native Andeans have resided at altitude for millennia. They display high aerobic capacity (VO₂max) at altitude, which may be a reflection of genetic adaptation to hypoxia. Previous genomewide (GW) scans for natural selection have nominated Egl-9 homolog 1 gene (EGLN1) as a candidate gene. The encoded protein, EGLN1/PHD2, is an O₂ sensor that controls levels of the Hypoxia Inducible Factor-α (HIF-α), which regulates the cellular response to hypoxia. From GW association and analysis of covariance performed on a total sample of 429 Peruvian Quechua and 94 US lowland referents, we identified 5 EGLN1 SNPs associated with higher VO₂max (L⋅min^-1 and mL⋅min^-1⋅kg^-1) in hypoxia (rs1769793, rs2064766, rs24

SUBMITTER: Brutsaert TD 

PROVIDER: S-EPMC6883775 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature