ArticleAmerican journal of human genetics2008
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 94 papers, 5 of them syntheses that pooled it.
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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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Who cites it
94 citing papers in PubMed, 5 syntheses or guidelines pooled it, 263 citations in OpenAlex.
- Pooled it
- Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.Human molecular genetics · 2018Pooled it
- Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.Nature genetics · 2012Pooled it
- Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.Pigment cell & melanoma research · 2010Pooled it
- Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival.Journal of the National Cancer Institute · 2010Pooled it
- Genome-wide association study identifies a genetic variant associated with risk for more aggressive prostate cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2011Trial
- Evaluation of the Prediction Potential of the HIrisPlex-S System in a North German Population.Genes · 2026Article
- Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction.Nature communications · 2025Article
- Hierarchical architecture of neo-sex chromosomes and accelerated adaptive evolution in tortricid moths.Genome research · 2025Article
- Phenotypic and genetic characteristics of retinal vascular parameters and their association with diseases.Nature communications · 2024Article
- Exploring Eye, Hair, and Skin Pigmentation in a Spanish Population: Insights from Hirisplex-S Predictions.Genes · 2024Article
- Genotype-Phenotype Correlation Model for the Spectrum ofDiagnostics (Basel, Switzerland) · 2024Article
- Predictive accuracy of genetic variants for eye color in a Kazakh population using the IrisPlex system.BMC research notes · 2024Article
- The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates.International journal of molecular sciences · 2024Article
- Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.Nature genetics · 2024Article
- Increased Histological Tumor Pigmentation in Uveal Melanoma Is Related to Eye Color and Loss of Chromosome 3/BAP1.Ophthalmology science · 2023Article
- Review
- Higher testosterone is associated with open-angle glaucoma in women: a genetic predisposition?Biology of sex differences · 2023Article
- Article
- MITF in Normal Melanocytes, Cutaneous and Uveal Melanoma: A Delicate Balance.International journal of molecular sciences · 2022Review
34 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
22 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human iris color was one of the first traits for which Mendelian segregation was established. To date, the genetics of iris color is still not fully understood and is of interest, particularly in view of forensic applications. In three independent genome-wide association (GWA) studies of a total of 1406 persons and a genome-wide linkage study of 1292 relatives, all from the Netherlands, we found that the 15q13.1 region is the predominant region involved in human iris color. There were no other regions showing consistent genome-wide evidence for association and linkage to iris color. Single nucleotide polymorphisms (SNPs) in the HERC2 gene and, to a lesser extent, in the neighboring OCA2 gene were independently associated to iris color variation. OCA2 has been implicated in iris color previously. A replication study within two populations confirmed that the HERC2 gene is a new and significant determinant of human iris color variation, in addition to OCA2. Furthermore, HERC2 rs916977 showed a clinal allele distribution across 23 European populations, which was significantly correlated to iris color variation. We suggest that genetic variants regulating expression of the OCA2 gene exist in the HERC2 gene or, alternatively, within the 11.7 kb of sequence between OCA2 and HERC2, and that most iris color variation in Europeans is explained by those two genes. Testing markers in the HERC2-OCA2 region may be useful in forensic applications to predict eye color phenotypes of unknown persons of European genetic origin.
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