ArticlePLoS genetics2013
Genetic architecture of skin and eye color in an African-European admixed population.
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 87 papers, 2 of them syntheses that pooled it.
What it found
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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.
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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.
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Who cites it
87 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.BMC genetics · 2019Pooled it
- A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry.Genome biology and evolution · 2019Pooled it
- Article
- A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism in a Canadian cohort of European ancestry.Scientific reports · 2026Article
- Review
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- Interpreting SNP heritability in admixed populations.Genetics · 2025Article
- Interpreting SNP heritability in admixed populations.bioRxiv : the preprint server for biology · 2025Article
- Why humans evolved blue eyes.Frontiers in psychology · 2025Article
- iGWAS: Image-based genome-wide association of self-supervised deep phenotyping of retina fundus images.PLoS genetics · 2024Article
- Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.Nature genetics · 2024Article
- Sickle Cell Anemia Screening in Newborns and Analysis of Haplotypes in Patients from Santiago Island, Cape Verde.Anemia · 2024Article
- Global and Local Ancestry and its Importance: A Review.Current genomics · 2024Review
- A genome-wide genetic screen uncovers determinants of human pigmentation.Science (New York, N.Y.) · 2023Article
- Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.Communications biology · 2023Article
- A genetic and linguistic analysis of the admixture histories of the islands of Cabo Verde.eLife · 2023Article
- Localizing Post-Admixture Adaptive Variants with Object Detection on Ancestry-Painted Chromosomes.Molecular biology and evolution · 2023Article
- Exploring regional aspects of 3D facial variation within European individuals.Scientific reports · 2023Article
- Genetic architecture and evolution of color variation in American black bears.Current biology : CB · 2023Article
- Identification of Polymorphisms in theThe journal of poultry science · 2023Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors.
Funding
Abstract
Variation in human skin and eye color is substantial and especially apparent in admixed populations, yet the underlying genetic architecture is poorly understood because most genome-wide studies are based on individuals of European ancestry. We study pigmentary variation in 699 individuals from Cape Verde, where extensive West African/European admixture has given rise to a broad range in trait values and genomic ancestry proportions. We develop and apply a new approach for measuring eye color, and identify two major loci (HERC2[OCA2] P = 2.3 × 10(-62), SLC24A5 P = 9.6 × 10(-9)) that account for both blue versus brown eye color and varying intensities of brown eye color. We identify four major loci (SLC24A5 P = 5.4 × 10(-27), TYR P = 1.1 × 10(-9), APBA2[OCA2] P = 1.5 × 10(-8), SLC45A2 P = 6 × 10(-9)) for skin color that together account for 35% of the total variance, but the genetic component with the largest effect (~44%) is average genomic ancestry. Our results suggest that adjacent cis-acting regulatory loci for OCA2 explain the relationship between skin and eye color, and point to an underlying genetic architecture in which several genes of moderate effect act together with many genes of small effect to explain ~70% of the estimated heritability.
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Registered trials
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.