Article
Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.
Journal of molecular medicine (Berlin, Germany) - 1 Jun 2017
Tashi Tsewang, Scott Reading N, Wuren Tanna, Zhang Xu, Moore Lorna G, Hu Hao, Tang Feng, Shestakova Anna, Lorenzo Felipe, Burjanivova Tatiana, Koul Parvaiz, Guchhait Prasenjit, Wittwer Carl T, Julian Colleen G, Shah Binal, Huff Chad D, Gordeuk Victor R, Prchal Josef T, Ge RiLi
Abstract excerpt
Tibetans have lived at high altitude for generations and are thought to be genetically adapted to hypoxic environments. Most are protected from hypoxia-induced polycythemia, and a haplotype of EPAS1, encoding hypoxia-inducible factor (HIF-2α), has been associated with lower hemoglobin levels. We earlier reported a Tibetan-specific EGLN1 haplotype encoding PHD2 which abrogates HIF augmentation in hypoxia. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.