Functional EPAS1 / HIF2A missense variant is associated with hematocrit in Andean highlanders

Abstract excerpt

Hypoxia-inducible factor pathway genes are linked to adaptation in both human and nonhuman highland species. EPAS1 , a notable target of hypoxia adaptation, is associated with relatively lower hemoglobin concentration in Tibetans. We provide evidence for an association between an adaptive EPAS1 variant (rs570553380) and the same phenotype of relatively low hematocrit in Andean highlanders. This Andean-specific...

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