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Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude
Joint Authors
Gesang, Luobu
Gusang, Lamu
Li, Kang
Dawa, Ciren
Gesang, Gawa
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-11-07
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Background.
The hypoxic conditions at high altitudes are great threats to survival, causing pressure for adaptation.
More and more high-altitude denizens are not adapted with the condition known as high-altitude polycythemia (HAPC) that featured excessive erythrocytosis.
As a high-altitude sickness, the etiology of HAPC is still unclear.
Methods.
In this study, we reported the whole-genome sequencing-based study of 10 native Tibetans with HAPC and 10 control subjects followed by genotyping of selected 21 variants from discovered single nucleotide variants (SNVs) in an independent cohort (232 cases and 266 controls).
Results.
We discovered the egl nine homologue 3 (egln3/phd3) (14q13.1, rs1346902, P=1.91×10−5) and PPP1R2P1 (Protein Phosphatase 1 Regulatory Inhibitor Subunit 2) gene (6p21.32, rs521539, P=0.012).
Our results indicated an unbiased framework to identify etiological mechanisms of HAPC and showed that egln3/phd3 and PPP1R2P1 may be associated with the susceptibility to HAPC.
Egln3/phd3b is associated with hypoxia-inducible factor subunit α (HIFα).
Protein Phosphatase 1 Regulatory Inhibitor is associated with reactive oxygen species (ROS) and oxidative stress.
Conclusions.
Our genome sequencing conducted in Tibetan HAPC patients identified egln3/phd3 and PPP1R2P1 associated with HAPC.
American Psychological Association (APA)
Gesang, Luobu& Gusang, Lamu& Dawa, Ciren& Gesang, Gawa& Li, Kang. 2019. Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude. Disease Markers،Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1147488
Modern Language Association (MLA)
Gesang, Luobu…[et al.]. Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude. Disease Markers No. 2019 (2019), pp.1-8.
https://search.emarefa.net/detail/BIM-1147488
American Medical Association (AMA)
Gesang, Luobu& Gusang, Lamu& Dawa, Ciren& Gesang, Gawa& Li, Kang. Whole-Genome Sequencing Identifies the Egl Nine Homologue 3 (egln3phd3) and Protein Phosphatase 1 Regulatory Inhibitor Subunit 2 (PPP1R2P1) Associated with High-Altitude Polycythemia in Tibetans at High Altitude. Disease Markers. 2019. Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1147488
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147488