Evidence map›Paper›PMID 31417607›Full record

ArticleFrontiers in genetics2019

The Genetic Architecture of Chronic Mountain Sickness in Peru.

Steven Gazal, Jose R Espinoza, Frédéric Austerlitz, Dominique Marchant, Jose Luis Macarlupu, Jorge Rodriguez, Hugo Ju-Preciado, Maria Rivera-Chira, Olivier Hermine, Fabiola Leon-Velarde and 3 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
2.3field-weighted citation impact, top 11% 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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Review
  8. Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025
    Article
  9. Review
  10. Article
  11. Isovolemic hemodilution in chronic mountain sickness acutely worsens nocturnal oxygenation and sleep apnea severity.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2022
    Article
  12. Review
  13. Review
  14. The Oxygen Transport Triad in High-Altitude Pulmonary Edema: A Perspective from the High Andes.International journal of environmental research and public health · 2021
    Article
  15. Article
  16. Article
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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

13 authors at 7 institutions in 3 countries.

Steven GazalDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, United States.
Jose R EspinozaLaboratorio de Biotecnología Molecular-LID, Departamento de Ciencias Celulares y Moleculares, Universidad Peruana Cayetano Heredia, Lima, Perú.
Frédéric AusterlitzUMR CNRS 7206 Eco-Anthropologie et Ethnobiologie, Musée de l'Homme, Paris, France.
Dominique MarchantUniversité Paris 13, Sorbonne Paris Cité, INSERM UMR 1272 Hypoxie et Poumon, Bobigny, France.
Jose Luis MacarlupuLaboratorio de Fisiología Comparada/Fisiología de Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Universidad Peruana Cayetano Heredia, Lima, Perú.
Jorge RodriguezLaboratorio de Biotecnología Molecular-LID, Departamento de Ciencias Celulares y Moleculares, Universidad Peruana Cayetano Heredia, Lima, Perú.
Hugo Ju-PreciadoLaboratorio de Fisiología Comparada/Fisiología de Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Universidad Peruana Cayetano Heredia, Lima, Perú.
Maria Rivera-ChiraLaboratorio de Fisiología Comparada/Fisiología de Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Universidad Peruana Cayetano Heredia, Lima, Perú.
Olivier HermineUniversité Paris Descartes, Institut National de la Santé et de la Recherche Médicale Unité 1163, Centre National de la Recherche Scientifique, Equipes de Recherche Labellisées 8254, Institut Imagine, Paris, France.
Fabiola Leon-VelardeLaboratorio de Fisiología Comparada/Fisiología de Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Universidad Peruana Cayetano Heredia, Lima, Perú.
Francisco C VillafuerteLaboratorio de Fisiología Comparada/Fisiología de Adaptación a la Altura-LID, Departamento de Ciencias Biológicas y Fisiológicas, Universidad Peruana Cayetano Heredia, Lima, Perú.
Jean-Paul RichaletUniversité Paris 13, Sorbonne Paris Cité, INSERM UMR 1272 Hypoxie et Poumon, Bobigny, France.
Laurent GouyaLaboratoire d'Excellence, Globule Rouge-Excellence, Paris, France.
Universidad Peruana Cayetano Heredia · PEBiologie Intégrée du Globule Rouge · FRCentre National de la Recherche Scientifique · FRHarvard University · USHypoxie et PoumonInserm · FRSorbonne Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chronic mountain sickness (CMS) is a pathological condition resulting from chronic exposure to high-altitude hypoxia. While its prevalence is high in native Andeans (>10%), little is known about the genetic architecture of this disease. Here, we performed the largest genome-wide association study (GWAS) of CMS (166 CMS patients and 146 controls living at 4,380 m in Peru) to detect genetic variants associated with CMS. We highlighted four new candidate loci, including the first CMS-associated variant reaching GWAS statistical significance (rs7304081;

Indexed as

chronic mountain sickness (CMS)GWAS—genome-wide association studyhigh altitude adaptationMonge’s diseasenatural selection

Identifiers

PMID31417607
PMCPMC6682665
OpenAlexW2960362302

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.