Further development of forensic eye color predictive tests

Ruiz, Y.; Phillips, C.; Gómez-Tato, Antonio; Alvarez-Dios, J.; Cal, M. Casares de; Cruz, Raquel; Maroñas, Olalla; Söchtig, Jens; Fondevila, M.; Rodriguez-Cid, M.J.; Carracedo, Ángel; Lareu, M.V.

doi:10.1016/j.fsigen.2012.05.009

Cited by 126 publications

(149 citation statements)

References 42 publications

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“…We used the suggested threshold probability of p>0.7 for a conclusive prediction of blue, intermediate or brown eye colour [11] and compared it to a simple prediction model with only HERC2 rs12913832. The predictions of the simple model were calculated using the Snipper classifier [6] that allows prediction of the eye colour based on a subset of the IrisPlex SNPs (in this case, only HERC2 rs12913832). The model predicted blue eye colour for rs12913832 GG individuals and brown eye colour for rs12913832 AA individuals whereas the eye colour of rs12913832 GA individuals was inconclusive (Table 4).…”

Section: Accuracy Of the Irisplex Prediction Model In The Italian Popmentioning

confidence: 99%

“…A total of 3 6 Table 1). If the minimum threshold of p>0.7 for a conclusive prediction was applied, all but two genotypes predicted as blue included rs12913832 GG (Table 5) and only 28 of 243 possible genotypes with rs12913832 GG were inconclusive.…”

Section: The Predictive Properties Of the Irisplex Prediction Modelmentioning

confidence: 99%

“…rs1800407 is a missense mutation in OCA2 located 135kp downstream from rs12913832. The haplotypes of this region were previously suggested to increase eye colour prediction [6,20,5]. It was suggested [12,21] that the OCA2 allele rs1800407 A decreased the pigmentation level in the eye when found in cis phase with the HERC2 allele rs12913832 A, whereas the OCA2 allele rs1800407 A found in Page 11 of 23 A c c e p t e d M a n u s c r i p t cis phase with the HERC2 allele rs12913832 G will display little effect on the eye colour because the transcription of OCA2 is reduced.…”

Section: The Predictive Properties Of the Irisplex Prediction Modelmentioning

confidence: 99%

“…Eye colour is currently the best investigated phenotype for forensic genetic applications. SNP multiplexes dedicated to predict eye colour were published [5,4,6]. One of these, the IrisPlex assay, was validated for forensic genetic testing [7].…”

Section: Introductionmentioning

confidence: 99%

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The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

Pietroni

Andersen

Johansen

et al. 2014

Forensic Science International: Genetics

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This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. In this study, we investigate the role of gender as a factor that contributes to eye colour variation and suggest that the gender effect on eye colour is population specific.A total of 230 Italian individuals were typed for the six IrisPlex SNPs (rs12913832, rs1800407, rs12896399, rs1393350, rs16891982 and rs12203592). A quantitative eye colour score (Pixel Index of the Eye: PIE-score) was calculated based on digital eye images using the custom made DIAT software. The results were compared with those of Danish and Swedish population samples.As expected, we found HERC2 rs12913832 as the main predictor of human eye colour independently of ancestry. Furthermore, we found gender to be significantly associated with quantitative eye colour measurements in the Italian population sample. We found that the association was statistically significant only among Italian individuals typed as heterozygote GA for HERC2 rs12913832. Interestingly, we did not observe the same association in the Danish and Swedish population. This indicated that the gender effect on eye colour is population specific. We estimated the effect of gender on quantitative eye colour in the Italian population sample to be 4.9%. Among gender and the IrisPlex SNPs, gender ranked as the second most important predictor of human eye colour variation in Italians after HERC2 rs12913832. We, furthermore, tested the five lower ranked IrisPlex predictors, and evaluated all possible 3 6 (729) genotype combinations of the IrisPlex assay and their corresponding predictive values using the IrisPlex prediction model [4]. The results suggested that maximum three (rs12913832, rs1800407, rs16891982) of the six IrisPlex SNPs are useful in practical forensic genetic casework.

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Section: Accuracy Of the Irisplex Prediction Model In The Italian Popmentioning

confidence: 99%

Section: The Predictive Properties Of the Irisplex Prediction Modelmentioning

confidence: 99%

Section: The Predictive Properties Of the Irisplex Prediction Modelmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

Pietroni

Andersen

Johansen

et al. 2014

Forensic Science International: Genetics

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“…In addition, other genes 32 such as SLC24A4, SLC45A2, TYR, TYRP1, ASIP or IRF4 have also been 33 recognised to contribute to eye colour variation, although to a 34 much lesser extent [8][9][10]. 35 More recently, investigations have focused on the development 36 of a forensic genetic test to accurately predict eye colour from an 37 unknown or anonymous DNA sample [11][12][13]. Although these 38 studies provide slightly different recommendations for accurate 39 eye colour prediction, all suggest that the genotyping of a small 40 number of SNPs from a handful of pigmentation-associated genes 41 can predict blue/brown eye colour with more than 90% accuracy.…”

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confidence: 99%

Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model

Martínez-Cadenas

Peña‐Chilet

Ibarrola‐Villava

et al. 2013

Forensic Science International: Genetics

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Prediction of Human Pigmentation Traits from DNA Polymorphisms

Branicki

Kayser

2015

Encyclopedia of Life Sciences

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Driven by recent evolutionary history, pigmentation traits significantly contribute to the most obvious parts of the overall human phenotypic diversity with skin colour varying between worldwide individuals, while eye and hair colour differences only exist in individuals of European (and neighbouring region) descent. Genetic association studies have discovered various DNA variants that together explain large proportion of phenotypic variance in eye, hair and skin colouration. Besides providing leads in the molecular understanding of human pigmentation, multiple associated DNA variants have also been used for prediction modelling of pigmentation traits. The success of DNA‐based pigmentation prediction laid the foundation for a new subfield of forensic genetics known as Forensic DNA Phenotyping, which aims to help finding unknown perpetrators. Pigmentation DNA prediction is further relevant in anthropological research from old and ancient human remains for reconstructing colour phenotypes of deceased persons including those of historical importance. Key Concepts Driven by recent evolutionary history, differences in pigmentation significantly contribute to the phenotypic diversity in humans. Eye, hair and skin colour reflect complex traits with multiple genes and environmental factors determining phenotypic variation distributed differently around the world. Gene mapping studies identified a number of pigmentation genes that typically but not necessarily determine all three pigmentation traits in humans. Multiple pigmentation‐associated DNA variants have proven useful to predict all three human pigmentation traits with varying accuracies. Several DNA test systems are available for accurate prediction of blue and brown eyes, while for other eye colours further research is needed. Available DNA test systems for hair colour provide accurate prediction of red and (albeit less so) of black hair, while the DNA prediction of blond and brown hair is troubled by age‐dependent hair colour changes in some (but not all) individuals not yet understood on the molecular level. Of the three human pigmentation traits, DNA prediction of skin colour is least advanced, requiring considerable further research. Current DNA prediction on the level of categorical eye, hair and skin colour shall be improved towards more detailed colour phenotypes, if the necessary DNA predictors become available via dedicated future research. Forensic science is a major recipient of pigmentation predictive DNA tests, where they are used to trace unknown perpetrators unidentifiable via conventional DNA profiling. Pigmentation DNA prediction is also relevant in anthropological and human evolutionary research particularly from old and ancient human remains.

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Further development of forensic eye color predictive tests

Cited by 126 publications

References 42 publications

The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

Gender is a major factor explaining discrepancies in eye colour prediction based on HERC2/OCA2 genotype and the IrisPlex model

Prediction of Human Pigmentation Traits from DNA Polymorphisms

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