Evidence map›Paper›PMID 25319824›Full record

ReviewGenes & development2014

Human high-altitude adaptation: forward genetics meets the HIF pathway.

Abigail W Bigham, Frank S Lee

Abstract readReview
In one paragraph

Review in Genes & development, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 192 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
192citing papers in PubMed, 4 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

192 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
  6. Article
  7. Homo luzonensis and the role of homoplasy in the morphology of hominin insular species.Cladistics : the international journal of the Willi Hennig Society · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. [U-shaped association between hematocrit and resting pulse oxygen saturation in Tibetan plateau population].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2026
    Article
  16. Review
  17. Article
  18. Review
  19. Article
  20. Review

132 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Abigail W BighamDepartment of Anthropology, University of Michigan, Ann Arbor, Michigan 48109, USA;
Frank S LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA franklee@mail.med.upenn.edu.

Funding

The HydroxylprolylproteomeR01GM090301 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI LEE, FRANK S · 2009 to 2013
$1.9M
Molecular Mechanisms of the Hypoxic ResponseR01CA153347 · NCI · UNIVERSITY OF PENNSYLVANIA · PI LEE, FRANK S · 2010 to 2014
$1.3M
High Altitude Adaptation: A Model for Chronic HypoxiaR21HL120751 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI LEE, FRANK S · 2014 to 2015
$429k
NCI NIH HHS R01 CA153347NCI NIH HHS R01-CA153347NHLBI NIH HHS R21 HL120751NHLBI NIH HHS R21-HL120751NIGMS NIH HHS R01 GM090301NIGMS NIH HHS R01-GM090301
6 · The paper itself

Abstract

Humans have adapted to the chronic hypoxia of high altitude in several locations, and recent genome-wide studies have indicated a genetic basis. In some populations, genetic signatures have been identified in the hypoxia-inducible factor (HIF) pathway, which orchestrates the transcriptional response to hypoxia. In Tibetans, they have been found in the HIF2A (EPAS1) gene, which encodes for HIF-2α, and the prolyl hydroxylase domain protein 2 (PHD2, also known as EGLN1) gene, which encodes for one of its key regulators, PHD2. High-altitude adaptation may be due to multiple genes that act in concert with one another. Unraveling their mechanism of action can offer new therapeutic approaches toward treating common human diseases characterized by chronic hypoxia.

Indexed as

AltitudeAdaptation, PhysiologicalBasic Helix-Loop-Helix ProteinsEndothelial PAS Domain-Containing Protein 1HumansHypoxiaHypoxia-Inducible Factor-Proline DioxygenasesBasic Helix-Loop-Helix ProteinsEGLN1 protein, humanEndothelial PAS Domain-Containing Protein 1Hypoxia-Inducible Factor-Proline DioxygenasesEGLN1HIFhigh-altitude adaptationhypoxiaPHD2Tibetan adaptation

Identifiers

PMID25319824
PMCPMC4201282

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.