Evidence map›Paper›PMID 25362634›Full record

ReviewPhysiology (Bethesda, Md.)2014

The genetic basis of chronic mountain sickness.

Roy Ronen, Dan Zhou, Vineet Bafna, Gabriel G Haddad

Abstract readReview
In one paragraph

Review in Physiology (Bethesda, Md.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

22 citing papers in PubMed, 41 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. [Progress in multiomics research on high altitude polycythemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024
    Review
  5. Article
  6. Arginine attenuates chronic mountain sickness in rats via microRNA-144-5p.Mammalian genome : official journal of the International Mammalian Genome Society · 2023
    Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Triggers, Protectors, and Predictors in Episodic Migraine.Current pain and headache reports · 2018
    Review
  14. Article
  15. Review
  16. High-altitude adaptation in humans: from genomics to integrative physiology.Journal of molecular medicine (Berlin, Germany) · 2017
    Review
  17. Article
  18. Article
  19. Article
  20. Review
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.

Roy RonenBioinformatics & Systems Biology Graduate Program, University of California San Diego, La Jolla, California;
Dan ZhouDepartment of Pediatrics, Division of Respiratory Medicine, University of California San Diego, La Jolla, California;
Vineet BafnaDepartment of Computer Science and Engineering, University of California San Diego, La Jolla, California;
Gabriel G HaddadDepartment of Pediatrics, Division of Respiratory Medicine, University of California San Diego, La Jolla, California; Department of Neurosciences, University of California San Diego, La Jolla, California; and Rady Children's Hospital, San Diego, California.
University of California, San Diego · US

Funding

iDASH: Integrating Data for Analysis, Anonymization, and SharingU54HL108460 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI OHNO-MACHADO, LUCILA · 2010 to 2015
$19.1M
Systems Biology CoreP01HL098053 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI POWELL, FRANK L. · 2010 to 2014
$10.2M
Project 3. Genetic Models of Human Structural Brain Defects in ZebrafishP01HD070494 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2011 to 2016
$6.7M
Algorithmic strategies for detecting structural variation in genomesR01HG004962 · NHGRI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BAFNA, VINEET · 2009 to 2012
$1.3M
NHGRI NIH HHS 5R01-HG-004962NHGRI NIH HHS R01 HG004962NHLBI NIH HHS 1P01 HL-098053NHLBI NIH HHS P01 HL098053NHLBI NIH HHS U54 HL108460NHLBI NIH HHS U54-HL-108460NICHD NIH HHS 1P01 HD-070494NICHD NIH HHS P01 HD070494
6 · The paper itself

Abstract

Chronic mountain sickness (CMS) is a disease that affects many high-altitude dwellers, particularly in the Andean Mountains in South America. The hallmark symptom of CMS is polycythemia, which causes increased risk of pulmonary hypertension and stroke (among other symptoms). A prevailing hypothesis in high-altitude medicine is that CMS results from a population-specific "maladaptation" to the hypoxic conditions at high altitude. In contrast, the prevalence of CMS is very low in other high-altitude populations (e.g., Tibetans and Ethiopians), which are seemingly well adapted to hypoxia. In recent years, concurrent with the advent of genomic technologies, several studies have investigated the genetic basis of adaptation to altitude. These studies have identified several candidate genes that may underlie the adaptation, or maladaptation. Interestingly, some of these genes are targeted by known drugs, raising the possibility of new treatments for CMS and other ischemic diseases. We review recent discoveries, alongside the methodologies used to obtain them, and outline some of the challenges remaining in the field.

Indexed as

AltitudeAcclimatizationAltitude SicknessEthiopiaGene-Environment InteractionGenetic MarkersGenetic Predisposition to DiseaseHumansHypoxiaPhenotypePrevalenceProtective FactorsRisk FactorsTibetGenetic Markers

Identifiers

PMID25362634
PMCPMC4280153
OpenAlexW2013059081

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.