ArticleHuman genetics2013
Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans.
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 47 papers.
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Who cites it
47 citing papers in PubMed, 102 citations in OpenAlex.
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- The genetic architecture of human skin pigmentation: evolution and adaptation across global populations.Frontiers in genetics · 2026Review
- Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction.Nature communications · 2025Article
- Dynamic clustering of genomics cohorts beyond race, ethnicity-and ancestry.BMC medical genomics · 2025Article
- Efficient Detection and Characterization of Targets of Natural Selection Using Transfer Learning.Molecular biology and evolution · 2025Article
- Efficient detection and characterization of targets of natural selection using transfer learning.bioRxiv : the preprint server for biology · 2025Article
- Neanderthal ancestry through time: Insights from genomes of ancient and present-day humans.Science (New York, N.Y.) · 2024Article
- Structural variant landscapes reveal convergent signatures of evolution in sheep and goats.Genome biology · 2024Article
- Neandertal ancestry through time: Insights from genomes of ancient and present-day humans.bioRxiv : the preprint server for biology · 2024Article
- Epigenetics insights from perceived facial aging.Clinical epigenetics · 2023Article
- Basonuclin-2 regulates extracellular matrix production and degradation.Life science alliance · 2023Article
- The contribution of Neanderthal introgression to modern human traits.Current biology : CB · 2022Review
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- Utilizing museomics to trace the complex history and species boundaries in an avian-study system of conservation concern.Heredity · 2022Article
- Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress.Clinical, cosmetic and investigational dermatology · 2022Article
- Quantifying the contribution of Neanderthal introgression to the heritability of complex traits.Nature communications · 2021Article
- Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.Biology open · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Natural variation in human skin pigmentation is primarily due to genetic causes rooted in recent evolutionary history. Genetic variants associated with human skin pigmentation confer risk of skin cancer and may provide useful information in forensic investigations. Almost all previous gene-mapping studies of human skin pigmentation were based on categorical skin color information known to oversimplify the continuous nature of human skin coloration. We digitally quantified skin color into hue and saturation dimensions for 5,860 Dutch Europeans based on high-resolution skin photographs. We then tested an extensive list of 14,185 single nucleotide polymorphisms in 281 candidate genes potentially involved in human skin pigmentation for association with quantitative skin color phenotypes. Confirmatory association was revealed for several known skin color genes including HERC2, MC1R, IRF4, TYR, OCA2, and ASIP. We identified two new skin color genes: genetic variants in UGT1A were significantly associated with hue and variants in BNC2 were significantly associated with saturation. Overall, digital quantification of human skin color allowed detecting new skin color genes. The variants identified in this study may also contribute to the risk of skin cancer. Our findings are also important for predicting skin color in forensic investigations.
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