Evidence map›Paper›PMID 23793515›Full record

ArticleHuman genetics2013

The adaptive variant EDARV370A is associated with straight hair in East Asians.

Jingze Tan, Yajun Yang, Kun Tang, Pardis C Sabeti, Li Jin, Sijia Wang

Abstract read
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In one paragraph

Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 3 pooled it
5.3field-weighted citation impact, top 4% 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

34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 75 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Article
  6. Evolution of long scalp hair in humans.The British journal of dermatology · 2025
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  7. Critical Considerations in Calling Disease-CausingJournal of clinical medicine · 2024
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  8. Ancestral Origins and Admixture History of Kazakhs.Molecular biology and evolution · 2024
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  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Evidence of Selection in the Ectodysplasin Pathway among Endangered Aquatic Mammals.Integrative organismal biology (Oxford, England) · 2022
    Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Asian Hair: A Review of Structures, Properties, and Distinctive Disorders.Clinical, cosmetic and investigational dermatology · 2020
    Review
  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

6 authors at 5 institutions in 2 countries.

Jingze TanState Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200433, China.
Yajun Yang
Kun Tang
Pardis C Sabeti
Li Jin
Sijia Wang
State Key Laboratory of Genetic EngineeringCenter for Systems Biology · USFudan University · CNHarvard University · USShanghai Institutes for Biological Sciences · CN

Funding

Host and Pathogen Evolution in Lassa FeverDP2OD006514 · OD · HARVARD UNIVERSITY · PI SABETI, PARDIS CHRISTINE · 2010 to 2010
$2.5M
NIH HHS 1DP2OD006514-01
6 · The paper itself

Abstract

Hair straightness/curliness is a highly heritable trait amongst human populations. Previous studies have reported European specific genetic variants influencing hair straightness, but those in East Asians remain unknown. One promising candidate is a derived coding variant of the ectodysplasin A receptor (EDAR), EDARV370A (370A), associated with several phenotypic changes of epidermal appendages. One of the strongest signals of natural selection in human genomes, 370A, has risen to high prevalence in East Asian and Native American populations, whilst being almost absent in Europeans and Africans. This striking frequency distribution and the pleiotropic nature of 370A led us to pursue if hair straightness, another epidermal appendage-related phenotype, is affected by this variant. By studying 1,718 individuals from four distinctive East Asian populations (Han, Tibetan, Mongolian, and Li), we found a significant association between 370A and the straight hair type in the Han (p = 2.90 × 10(-6)), Tibetan (p = 3.07 × 10(-2)), and Mongolian (p = 1.03 × 10(-5)) populations. Combining all the samples, the association is even stronger (p = 5.18 × 10(-10)). The effect of 370A on hair straightness is additive, with an odds ratio of 2.05. The results indicate very different biological mechanisms of straight hair in Europe and Asia, and also present a more comprehensive picture of the phenotypic consequences of 370A, providing important clues into the potential adaptive forces shaping the evolution of this extraordinary genetic variant.

Indexed as

Polymorphism, Single NucleotideAdolescentAdultAgedAged, 80 and overEdar ReceptorEyeFemaleGene FrequencyGenetic Association StudiesGenetics, PopulationGenome, HumanHairHumansLogistic ModelsMaleEDAR protein, humanEdar Receptor

Identifiers

PMID23793515
OpenAlexW2012009641

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.