Evidence map›Paper›PMID 22570615›Full record

ArticlePLoS genetics2012

Patterns of ancestry, signatures of natural selection, and genetic association with stature in Western African pygmies.

Joseph P Jarvis, Laura B Scheinfeldt, Sameer Soi, Charla Lambert, Larsson Omberg, Bart Ferwerda, Alain Froment, Jean-Marie Bodo, William Beggs, Gabriel Hoffman and 2 more

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed
10.8field-weighted citation impact, top 1% 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

68 citing papers in PubMed, 141 citations in OpenAlex.

  1. Genomic evidence for shared common ancestry of East African hunting-gathering populations and insights into local adaptation.Proceedings of the National Academy of Sciences of the United States of America · 2019
    Trial
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. High Genetic Diversity andFrontiers in cellular and infection microbiology · 2022
    Article
  11. Article
  12. Human genetic admixture.PLoS genetics · 2021
    Review
  13. Review
  14. Article
  15. Article
  16. Human adaptation over the past 40,000 years.Current opinion in genetics & development · 2020
    Review
  17. Review
  18. Article
  19. Review
  20. Article

8 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

12 authors at 4 institutions in 3 countries.

Joseph P JarvisDepartment of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
Laura B Scheinfeldt
Sameer Soi
Charla Lambert
Larsson Omberg
Bart Ferwerda
Alain Froment
Jean-Marie Bodo
William Beggs
Gabriel Hoffman
Jason Mezey
Sarah A Tishkoff
University of Pennsylvania · USCornell University · USInstitut de Recherche pour le Développement · FRMinistry of Scientific Research and Innovation · CM

Funding

Statistical Genetics Core: Impact of BDNF Genotype and Stress on LearningP50MH079513 · NIMH · WEILL MEDICAL COLL OF CORNELL UNIV · PI CASEY/CLARK, · 2008 to 2012
$9.4M
African Odyssey: An Integrative Genomics Analysis of Complex Physiologic TraitsDP1OD006445 · OD · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2009 to 2011
$2.4M
African Odyssey: An Integrative Genomics Analysis of Complex Physiologic TraitsDP1ES022577 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI TISHKOFF, SARAH ANNE · 2012 to 2013
$1.6M
Association Mapping in Structured PopulationsR01GM083606 · NIGMS · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL · 2007 to 2010
$1.3M
Variation at Malaria Resistance Genes in AfricansR01GM076637 · NIGMS · UNIV OF MARYLAND, COLLEGE PARK · PI TISHKOFF, SARAH ANNE · 2006 to 2009
$1.2M
NHGRI NIH HHS 1F32HG005290-01NIEHS NIH HHS DP1 ES022577NIGMS NIH HHS R01 GM076637NIGMS NIH HHS R01 GM083606NIH HHS DP1 OD006445NIMH NIH HHS 1P50MH079513-02NIMH NIH HHS P50 MH079513
6 · The paper itself

Abstract

African Pygmy groups show a distinctive pattern of phenotypic variation, including short stature, which is thought to reflect past adaptation to a tropical environment. Here, we analyze Illumina 1M SNP array data in three Western Pygmy populations from Cameroon and three neighboring Bantu-speaking agricultural populations with whom they have admixed. We infer genome-wide ancestry, scan for signals of positive selection, and perform targeted genetic association with measured height variation. We identify multiple regions throughout the genome that may have played a role in adaptive evolution, many of which contain loci with roles in growth hormone, insulin, and insulin-like growth factor signaling pathways, as well as immunity and neuroendocrine signaling involved in reproduction and metabolism. The most striking results are found on chromosome 3, which harbors a cluster of selection and association signals between approximately 45 and 60 Mb. This region also includes the positional candidate genes DOCK3, which is known to be associated with height variation in Europeans, and CISH, a negative regulator of cytokine signaling known to inhibit growth hormone-stimulated STAT5 signaling. Finally, pathway analysis for genes near the strongest signals of association with height indicates enrichment for loci involved in insulin and insulin-like growth factor signaling.

Indexed as

Biological EvolutionDwarfismAdaptation, BiologicalAfrica, WesternBlack PeopleBody HeightChromosome MappingEthnicityGenetic Association StudiesGenome, HumanGrowth HormoneGuanine Nucleotide Exchange FactorsHumansInsulin-Like Growth Factor INerve Tissue ProteinsPolymorphism, Single NucleotideDOCK3 protein, humanGrowth HormoneGuanine Nucleotide Exchange FactorsInsulin-Like Growth Factor INerve Tissue ProteinsSuppressor of Cytokine Signaling Proteins

Identifiers

PMID22570615
PMCPMC3343053
OpenAlexW1999771068

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.