Rs1769793 variant reduces EGLN1 expression in skeletal muscle and hippocampus and contributes to high aerobic capacity in hypoxia

Abstract

Evidence shows that EGLN1 could control the hypoxia-inducible factor-α (HIF-1α) level by suppressing its transcriptional activity, which, in turn, regulates the cellular hypoxic response (1⇓–3). Brutsaert et al. (4) analyze 429 Peruvian Quechua individuals and 94 US lowland referents. They identify five EGLN1 variants (rs1769793, rs2064766, rs2437150, rs2491403, and rs479200) to be associated with higher VO2max in hypoxia (4). They further demonstrate the role of natural selection in increasing the frequency of EGLN1 genetic variants at high altitude (4). However, it remains unclear how these variants affect high aerobic capacity in hypoxia, as they are located in noncoding regions of EGLN1 or outside the EGLN1 gene boundaries (4). In discussion, Brutsaert et al. (4) hypothesize … [↵][1]1To whom correspondence may be addressed. Email: liuguiyou1981{at}163.com or jixm{at}ccmu.edu.cn. [1]: #xref-corresp-1-1