Evidence map›Paper›PMID 23874230›Full record

ArticlePLoS genetics2013

Genomic analysis of natural selection and phenotypic variation in high-altitude mongolians.

Jinchuan Xing, Tana Wuren, Tatum S Simonson, W Scott Watkins, David J Witherspoon, Wilfred Wu, Ga Qin, Chad D Huff, Lynn B Jorde, Ri-Li Ge

Abstract read
In one paragraph

Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing 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

35 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Effect ofBioMed research international · 2020
    Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
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

10 authors.

Jinchuan XingEccles Institute of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Tana Wuren
Tatum S Simonson
W Scott Watkins
David J Witherspoon
Wilfred Wu
Ga Qin
Chad D Huff
Lynn B Jorde
Ri-Li Ge

Funding

Rare disease susceptibility alleles in children with Crohn diseaseR01DK091374 · NIDDK · UNIVERSITY OF UTAH · PI GUTHERY, STEPHEN L · 2011 to 2014
$1.3M
High-throughput Mobile Element Genotyping Using Next-generation SequencingR00HG005846 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI XING, JINCHUAN · 2012 to 2014
$736k
NHGRI NIH HHS R00 HG005846NHGRI NIH HHS R00HG005846NHLBI NIH HHS 1T32HL10532NIDDK NIH HHS R01 DK091374NIDDK NIH HHS R01DK091374
6 · The paper itself

Abstract

Deedu (DU) Mongolians, who migrated from the Mongolian steppes to the Qinghai-Tibetan Plateau approximately 500 years ago, are challenged by environmental conditions similar to native Tibetan highlanders. Identification of adaptive genetic factors in this population could provide insight into coordinated physiological responses to this environment. Here we examine genomic and phenotypic variation in this unique population and present the first complete analysis of a Mongolian whole-genome sequence. High-density SNP array data demonstrate that DU Mongolians share genetic ancestry with other Mongolian as well as Tibetan populations, specifically in genomic regions related with adaptation to high altitude. Several selection candidate genes identified in DU Mongolians are shared with other Asian groups (e.g., EDAR), neighboring Tibetan populations (including high-altitude candidates EPAS1, PKLR, and CYP2E1), as well as genes previously hypothesized to be associated with metabolic adaptation (e.g., PPARG). Hemoglobin concentration, a trait associated with high-altitude adaptation in Tibetans, is at an intermediate level in DU Mongolians compared to Tibetans and Han Chinese at comparable altitude. Whole-genome sequence from a DU Mongolian (Tianjiao1) shows that about 2% of the genomic variants, including more than 300 protein-coding changes, are specific to this individual. Our analyses of DU Mongolians and the first Mongolian genome provide valuable insight into genetic adaptation to extreme environments.

Indexed as

Genome, HumanSelection, GeneticAcclimatizationAdaptation, PhysiologicalAllelesAltitudeAltitude SicknessAsian PeopleGene FrequencyGenetics, PopulationGenome-Wide Association StudyHumansMongoliaPhenotypePolymorphism, Single NucleotideSequence Analysis, DNA

Identifiers

PMID23874230
PMCPMC3715426

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.