Evidence map›Paper›PMID 22068265›Full record

ReviewHuman genetics2012

Genetic determinants of Tibetan high-altitude adaptation.

Tatum S Simonson, Donald A McClain, Lynn B Jorde, Josef T Prchal

Abstract readReview
PubMed Publisher
In one paragraph

Review in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.

0numbers the graph read from it
0cells of the map it votes in
79citing papers in PubMed
6.6field-weighted citation impact, top 3% of its field
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

79 citing papers in PubMed, 141 citations in OpenAlex.

  1. Trial
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  6. Review
  7. Observational
  8. Review
  9. Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
  10. Article
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19 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

4 authors at 1 institution in 1 country.

Tatum S SimonsonEccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Donald A McClain
Lynn B Jorde
Josef T Prchal
University of Utah · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Some highland populations have genetic adaptations that enable their successful existence in a hypoxic environment. Tibetans are protected against many of the harmful responses exhibited by non-adapted populations upon exposure to severe hypoxia, including elevated hemoglobin concentration (i.e., polycythemia). Recent studies have highlighted several genes subject to natural selection in native high-altitude Tibetans. Three of these genes, EPAS1, EGLN1 and PPARA, regulate or are regulated by hypoxia inducible factor, a principal controller of erythropoiesis and other organismal functions. Uncovering the molecular basis of hypoxic adaptation should have implications for understanding hematological and other adaptations involved in hypoxia tolerance. Because the hypoxia response involves a variety of cardiovascular, pulmonary and metabolic functions, this knowledge would improve our understanding of disease mechanisms and could ultimately be translated into targeted therapies for oxygen deprivation, cardiopulmonary and cerebral pathologies, and metabolic disorders such as diabetes and obesity.

Indexed as

AltitudeAdaptation, PhysiologicalBasic Helix-Loop-Helix ProteinsEndothelial PAS Domain-Containing Protein 1HumansHypoxiaHypoxia-Inducible Factor-Proline DioxygenasesPolymorphism, Single NucleotidePPAR alphaProcollagen-Proline DioxygenaseSelection, GeneticTibetBasic Helix-Loop-Helix ProteinsEGLN1 protein, humanEndothelial PAS Domain-Containing Protein 1Hypoxia-Inducible Factor-Proline DioxygenasesPPAR alphaProcollagen-Proline Dioxygenase

Identifiers

PMID22068265
OpenAlexW2058264553

What OpenQuestion holds

Textmetadata
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.