Evidence map›Paper›PMID 38849341›Full record

ArticleNature communications2024

Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.

Beomsu Kim, Dan Say Kim, Joong-Gon Shin, Sangseob Leem, Minyoung Cho, Hanji Kim, Ki-Nam Gu, Jung Yeon Seo, Seung Won You, Alicia R Martin and 5 more

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Beyond the Classics: The Synergy of AI and Genomics Reveals an Expanded Repertoire of Pigmentation Genes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2026
    Review
  2. Article
  3. Article
  4. Global patterns of natural selection inferred using ancient DNA.bioRxiv : the preprint server for biology · 2026
    Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Polygenic prediction of human complex traits using ancient DNA.Current opinion in genetics & development · 2025
    Review
  11. Article
  12. 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

15 authors.

Beomsu Kim *Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, 06351, Republic of Korea.ORCID http://orcid.org/0000-0001-7410-4273
Dan Say Kim *Samsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, 06351, Republic of Korea.
Joong-Gon Shin *Research and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.
Sangseob Leem *Research and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.
Minyoung ChoSamsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, 06351, Republic of Korea.ORCID http://orcid.org/0000-0001-5023-0902
Hanji KimResearch and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.
Ki-Nam GuResearch and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.
Jung Yeon SeoResearch and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.ORCID http://orcid.org/0000-0003-2016-2974
Seung Won YouResearch and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.
Alicia R MartinAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.ORCID http://orcid.org/0000-0003-0241-3522
Sun Gyoo ParkResearch and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.
Yunkwan KimResearch and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea.ORCID http://orcid.org/0000-0003-1353-4784
Choongwon JeongSchool of Biological Sciences, Seoul National University, Seoul, 08826, Republic of Korea.ORCID http://orcid.org/0000-0003-3049-2352
Nae Gyu KangResearch and Innovation Center, CTO, LG Household & Healthcare (LG H&H), Seoul, 07795, Republic of Korea. ngkang@lghnh.com.
Hong-Hee WonSamsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, 06351, Republic of Korea. wonhh@skku.edu.ORCID http://orcid.org/0000-0001-5719-0552

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Evidence for adaptation of human skin color to regional ultraviolet radiation suggests shared and distinct genetic variants across populations. However, skin color evolution and genetics in East Asians are understudied. We quantified skin color in 48,433 East Asians using image analysis and identified associated genetic variants and potential causal genes for skin color as well as their polygenic interplay with sun exposure. This genome-wide association study (GWAS) identified 12 known and 11 previously unreported loci and SNP-based heritability was 23-24%. Potential causal genes were determined through the identification of nonsynonymous variants, colocalization with gene expression in skin tissues, and expression levels in melanocytes. Genomic loci associated with pigmentation in East Asians substantially diverged from European populations, and we detected signatures of polygenic adaptation. This large GWAS for objectively quantified skin color in an East Asian population improves understanding of the genetic architecture and polygenic adaptation of skin color and prioritizes potential causal genes.

Indexed as

Genome-Wide Association StudyMultifactorial InheritancePolymorphism, Single NucleotideSkin PigmentationAdaptation, PhysiologicalAdultChromosome MappingEast Asian PeopleFemaleHumansMaleMiddle AgedQuantitative Trait LociUltraviolet Rays

Identifiers

PMID38849341
PMCPMC11161515

What OpenQuestion holds

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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.