“…Several candidate genes for adaptation to altitude have nevertheless been clearly identified 21,22 , the most prominent ones being involved in the hypoxia inducible factor (HIF) pathway, which plays a major role in response to hypoxia 23 . In Andeans, VEGFA (vascular endothelial growth factor A, MIM 192240), PRKAA1 (protein kinase, AMP-activated, alpha 1 catalytic subunit, MIM 602739) and NOS2A (nitric oxide synthase 2A, MIM 163730) are the best-supported candidates, as well as EGLN1 (egl-9 family hypoxia-inducible factor 1, MIM 606425), a down regulator of some HIF targets 12,24 . In Tibetans 10,11,13,14,16,25 , the HIF pathway gene EPAS1 (endothelial PAS domain protein 1, MIM 603349) and EGLN1 have been repeatedly identified 22 .…”