Reply to Liu et al.: The Andean EGLN1 adaptive allele could be a loss of function variant that increases HIF1-α in skeletal muscle.

We commend the work of Liu et al. (1), who show that EGLN1 is mainly expressed in skeletal muscle tissue compared to numerous other tissues examined, and that the rs1769793 T allele reduces EGLN1 expression in skeletal muscle. These findings lend plausibility to the hypothesis that the EGLN1 T-allele, which is at high frequency in Peruvian Quechua and also associated with a higher VO2max in hypoxia (2), operates through effects on skeletal muscle oxygen use and metabolism. This … [↵][1]1To whom correspondence may be addressed. Email: tdbrutsa{at}syr.edu. [1]: #xref-corresp-1-1