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Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2 alpha) polymorphism lowers hemoglobin concentration in Tibetan highlanders

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10363947" target="_blank" >RIV/00216208:11110/17:10363947 - isvavai.cz</a>

  • Result on the web

    <a href="http://dx.doi.org/10.1007/s00109-017-1519-3" target="_blank" >http://dx.doi.org/10.1007/s00109-017-1519-3</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1007/s00109-017-1519-3" target="_blank" >10.1007/s00109-017-1519-3</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2 alpha) polymorphism lowers hemoglobin concentration in Tibetan highlanders

  • Original language description

    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-2 alpha), has been associated with lower hemoglobin levels. We earlier reported a Tibetan-specific EGLN1 haplotype encoding PHD2 which abrogates HIF augmentation in hypoxia. We genotyped 347 Tibetan individuals from varying altitudes for both the Tibetan-specific EGLN1 haplotype and 10 candidate SNPs in the EPAS1 haplotype and correlated their association with hemoglobin levels. The effect of the EGLN1 haplotype on hemoglobin exhibited age dependency at low altitude, while at higher altitudes, it showed a trend to lower hemoglobin levels in the presence of the Tibetan-selected EPAS1 rs142764723 C/C allele. The observed gene-environment and gene-gene interactions and the moderate effect of the EGLN1 and EPAS1 haplotypes on hemoglobin indicate that other modifiers exist. It remains to be determined whether a blunting of erythropoiesis or other physiological consequences of HIF downregulation are the primary drivers of these genetic adaptations among Tibetans.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10600 - Biological sciences

Result continuities

  • Project

  • Continuities

    V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Others

  • Publication year

    2017

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Journal of Molecular Medicine

  • ISSN

    0946-2716

  • e-ISSN

  • Volume of the periodical

    95

  • Issue of the periodical within the volume

    6

  • Country of publishing house

    DE - GERMANY

  • Number of pages

    6

  • Pages from-to

    665-670

  • UT code for WoS article

    000402017500010

  • EID of the result in the Scopus database

    2-s2.0-85013640219