Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

2008/01/28 by Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens +26 · 8 citations
Biochemistry, Genetics and Molecular Biology · #Allele #Biology #Copy-number variation #Evolutionary biology #Eye color #Gene #Genetic and phenotypic traits in livestock #Genetic diversity and population structure #Genetics #Genome #Genotype #Single-nucleotide polymorphism #melanin and skin pigmentation

paper · pdf · doi:10.1016/j.ajhg.2007.10.003

openalex publication_date 2008/01/28 · crossref created 2008/01/28 · crossref issued 2008/02/01 · crossref published 2008/02/01 · crossref published-print 2008/02/01 · crossref deposited 2024/02/21 · openalex created_date 2025/10/10 · crossref indexed 2026/06/02 · openalex updated_date 2026/08/02

Citations

• The color of the human eye: A review of morphologic correlates and of some conditions that affect iridial pigmentation
• Melanin in human irides of different color and age of donors
• Eye colour: portals into pigmentation genes and ancestry
• A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly
• The meaning and use of the area under a receiver operating characteristic (ROC) curve.
• PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
• The Effect of Genetic Drift in a Young Genetically Isolated Population

Cited by

• Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype
• IrisPlex: A sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information
• The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation
• DNA-based prediction of human externally visible characteristics in forensics: Motivations, scientific challenges, and ethical considerations
• Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage
• Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes
• Current genetic methodologies in the identification of disaster victims and in forensic analysis
• Eye color [wikipedia]