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Gender is a Major Factor Explaining Discrepancies in Eye Colour Prediction Based on HERC2/OCA2 Genotype and the IrisPlex Model

NCJ Number
246410
Journal
Forensic Science International: Genetics Volume: 7 Issue: 4 Dated: July 2013 Pages: 453-460
Author(s)
Conrado Martinez-Cadenas; Maria Peña-Chilet; Gloria Ribas; Maider Ibarrola-Villava
Date Published
July 2013
Length
8 pages
Annotation
In recent years, several studies have greatly increased ones understanding of the genetic basis underlying human eye color variation. In this work researchers have genotyped 6 SNPs associated with eye color (IrisPlex) in 535 individuals from Spain, a Mediterranean population
Abstract
In recent years, several studies have greatly increased ones understanding of the genetic basis underlying human eye color variation. A large percentage of the eye color diversity present in humans can already be genetically explained, so much so that different DNA-based eye color prediction models, such as IrisPlex, have been recently developed for forensic purposes. Though these models are already highly accurate, they are by no means perfect, with many genotype-phenotype discrepancies still remaining unresolved. In this work researchers have genotyped 6 SNPs associated with eye color (IrisPlex) in 535 individuals from Spain, a Mediterranean population. Aside from different SNP frequencies in Spain compared to Northern Europe, the results for eye color prediction are quite similar to other studies. However, researchers have found an association between gender and eye color prediction. When comparing similar eye color genetic profiles, females tend, as a whole, to have darker eyes than males (and, conversely, males lighter than females). These results are also corroborated by the revision and meta-analysis of data from previously published eye color genetic studies in several Caucasian populations, which significantly support the fact that males are more likely to have blue eyes than females, while females tend to show higher frequencies of green and brown eyes than males. This significant gender difference would suggest that there is an as yet unidentified gender-related factor contributing to human eye color variation. (Published Abstract)