Evidence map›Paper›PMID 30335146›Full record

ArticleGenome biology and evolution2018

Evidence of Polygenic Adaptation to High Altitude from Tibetan and Sherpa Genomes.

Guido A Gnecchi-Ruscone, Paolo Abondio, Sara De Fanti, Stefania Sarno, Mingma G Sherpa, Phurba T Sherpa, Giorgio Marinelli, Luca Natali, Marco Di Marcello, Davide Peluzzi and 3 more

Abstract read
In one paragraph

Article in Genome biology and evolution, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
–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

34 citing papers in PubMed.

  1. Article
  2. Article
  3. Exploring the genetic footprints of high altitude adapted humans and livestock.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Review
  4. Advances in Understanding Adaptive Hemoglobin Concentration at High Altitude.American journal of human biology : the official journal of the Human Biology Council · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Adaptation Mechanisms of Yak (Animals : an open access journal from MDPI · 2021
    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

13 authors.

Guido A Gnecchi-RusconeLaboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Paolo AbondioLaboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Sara De FantiLaboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Stefania SarnoLaboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Mingma G SherpaMount Everest Summiters Club, Rolwaling, Dolakha, Nepal.
Phurba T SherpaMount Everest Summiters Club, Rolwaling, Dolakha, Nepal.
Giorgio MarinelliExplora Nunaat International, Montorio al Vomano, Teramo, Italy.
Luca NataliExplora Nunaat International, Montorio al Vomano, Teramo, Italy.
Marco Di MarcelloExplora Nunaat International, Montorio al Vomano, Teramo, Italy.
Davide PeluzziExplora Nunaat International, Montorio al Vomano, Teramo, Italy.
Donata LuiselliDepartment of Cultural Heritage, University of Bologna, Ravenna, Italy.
Davide PettenerLaboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Marco SazziniLaboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.

Funding

Genetic adaptations to high altitudeR01HL119577 · NHLBI · UNIVERSITY OF CHICAGO · PI DI RIENZO, ANNA · 2014 to 2023
$4.9M
NHLBI NIH HHS R01 HL119577
6 · The paper itself

Abstract

Although Tibetans and Sherpa present several physiological adjustments evolved to cope with selective pressures imposed by the high-altitude environment, especially hypobaric hypoxia, few selective sweeps at a limited number of hypoxia related genes were confirmed by multiple genomic studies. Nevertheless, variants at these loci were found to be associated only with downregulation of the erythropoietic cascade, which represents an indirect aspect of the considered adaptive phenotype. Accordingly, the genetic basis of Tibetan/Sherpa adaptive traits remains to be fully elucidated, in part due to limitations of selection scans implemented so far and mostly relying on the hard sweep model.In order to overcome this issue, we used whole-genome sequence data and several selection statistics as input for gene network analyses aimed at testing for the occurrence of polygenic adaptation in these high-altitude Himalayan populations. Being able to detect also subtle genomic signatures ascribable to weak positive selection at multiple genes of the same functional subnetwork, this approach allowed us to infer adaptive evolution at loci individually showing small effect sizes, but belonging to highly interconnected biological pathways overall involved in angiogenetic processes.Therefore, these findings pinpointed a series of selective events neglected so far, which likely contributed to the augmented tissue blood perfusion observed in Tibetans and Sherpa, thus uncovering the genetic determinants of a key biological mechanism that underlies their adaptation to high altitude.

Indexed as

Adaptation, BiologicalAltitudeGenome, HumanMultifactorial InheritanceSelection, GeneticHumansMultigene FamilyNepalPhenotypeTibet

Identifiers

PMID30335146
PMCPMC6239493

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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.