ArticleNature communications2019
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 3 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.
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.
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Who cites it
84 citing papers in PubMed, 3 syntheses or guidelines pooled it, 200 citations in OpenAlex.
- Proteomic Biomarkers Associated with Low Bone Mineral Density: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Genome-wide meta-analysis revealed several genetic loci associated with serum uric acid levels in Korean population: an analysis of Korea Biobank data.Journal of human genetics · 2022Pooled it
- Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.BMC genetics · 2019Pooled it
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Whole genome sequencing of 1427 Mexican individuals from the oriGen cohort.Nature communications · 2026Article
- 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 · 2026Review
- Genetic Markers of Tumor Multiplicity in Non-melanoma Skin Cancer: Associations of 19 SNPs in an Italian Cohort.Dermatology and therapy · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- 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
- Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation.Science advances · 2026Article
- The genetic architecture of human skin pigmentation: evolution and adaptation across global populations.Frontiers in genetics · 2026Review
- Genetic insights into the peoples who shaped the American continent.Genetics and molecular biology · 2026Article
- Multi-trait analysis of pigmentation traits in relation to skin and ocular cancers: Relevance for evolutionary medicine.Evolution, medicine, and public health · 2026Article
- A Comprehensive Review of GWASs of Human Hair Traits.The Journal of investigative dermatology · 2025Review
- Review
- From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.PLoS genetics · 2025Article
- The Genetics and Evolution of Human Pigmentation.Biology · 2025Review
- Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.International journal of molecular sciences · 2025Article
- Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas.Cell genomics · 2024Article
- Selection scan in Native Americans of Mexico identifiesHeliyon · 2024Article
24 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
32 authors at 16 institutions in 12 countries.
Funding
Abstract
We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.
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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.