Evidence map›Paper›PMID 24244186›Full record

ArticlePLoS genetics2013

The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent.

Chandana Basu Mallick, Florin Mircea Iliescu, Märt Möls, Sarah Hill, Rakesh Tamang, Gyaneshwer Chaubey, Rie Goto, Simon Y W Ho, Irene Gallego Romero, Federica Crivellaro and 10 more

Open access · goldAbstract 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 61 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 6% 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

61 citing papers in PubMed, 1 synthesis or guideline pooled it, 125 citations in OpenAlex.

  1. Pooled it
  2. Review
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  7. Article
  8. Review
  9. Inference of human pigmentation from ancient DNA by genotype likelihoods.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
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  16. Virtual approach of the aesthetical fit between hair colours and skin tones in women of different ethnical origin backgrounds.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2022
    Article
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1 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

20 authors at 7 institutions in 4 countries.

Chandana Basu MallickDepartment of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia ; Estonian Biocentre, Tartu, Estonia.
Florin Mircea Iliescu
Märt Möls
Sarah Hill
Rakesh Tamang
Gyaneshwer Chaubey
Rie Goto
Simon Y W Ho
Irene Gallego Romero
Federica Crivellaro
Georgi Hudjashov
Niraj Rai
Mait Metspalu
C G Nicholas Mascie-Taylor
Ramasamy Pitchappan
Lalji Singh
Marta Mirazon-Lahr
Kumarasamy Thangaraj
Richard Villems
Toomas Kivisild
University of Cambridge · GBEstonian Biocentre · EECentre for Cellular and Molecular Biology · INUniversity of Tartu · EEBanaras Hindu University · INChettinad Health City · INUniversity of Sydney · AU

Funding

European Research Council 261213
6 · The paper itself

Abstract

Skin pigmentation is one of the most variable phenotypic traits in humans. A non-synonymous substitution (rs1426654) in the third exon of SLC24A5 accounts for lighter skin in Europeans but not in East Asians. A previous genome-wide association study carried out in a heterogeneous sample of UK immigrants of South Asian descent suggested that this gene also contributes significantly to skin pigmentation variation among South Asians. In the present study, we have quantitatively assessed skin pigmentation for a largely homogeneous cohort of 1228 individuals from the Southern region of the Indian subcontinent. Our data confirm significant association of rs1426654 SNP with skin pigmentation, explaining about 27% of total phenotypic variation in the cohort studied. Our extensive survey of the polymorphism in 1573 individuals from 54 ethnic populations across the Indian subcontinent reveals wide presence of the derived-A allele, although the frequencies vary substantially among populations. We also show that the geospatial pattern of this allele is complex, but most importantly, reflects strong influence of language, geography and demographic history of the populations. Sequencing 11.74 kb of SLC24A5 in 95 individuals worldwide reveals that the rs1426654-A alleles in South Asian and West Eurasian populations are monophyletic and occur on the background of a common haplotype that is characterized by low genetic diversity. We date the coalescence of the light skin associated allele at 22-28 KYA. Both our sequence and genome-wide genotype data confirm that this gene has been a target for positive selection among Europeans. However, the latter also shows additional evidence of selection in populations of the Middle East, Central Asia, Pakistan and North India but not in South India.

Indexed as

AllelesAntiportersAsian PeopleGenetic VariationGenome-Wide Association StudyHaplotypesHumansPolymorphism, Single NucleotideSkin PigmentationWhite PeopleAntiportersSLC24A5 protein, human

Identifiers

PMID24244186
PMCPMC3820762
OpenAlexW2163265624

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LicenceCC BY
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Registered trials

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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.