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Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set

Description of a perpetrator’s eye colour can be an important investigative lead in a forensic case with no apparent suspects. Herein, we present 11 SNPs (Eye Colour 11-EC11) that are important for eye colour prediction and eye colour prediction models for a two-category reporting system (blue and b...

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Autores principales: Meyer, Olivia Strunge, Salvo, Nina Mjølsnes, Kjærbye, Anne, Kjersem, Marianne, Andersen, Mikkel Meyer, Sørensen, Erik, Ullum, Henrik, Janssen, Kirstin, Morling, Niels, Børsting, Claus, Olsen, Gunn-Hege, Andersen, Jeppe Dyrberg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227851/
https://www.ncbi.nlm.nih.gov/pubmed/34071952
http://dx.doi.org/10.3390/genes12060821
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author Meyer, Olivia Strunge
Salvo, Nina Mjølsnes
Kjærbye, Anne
Kjersem, Marianne
Andersen, Mikkel Meyer
Sørensen, Erik
Ullum, Henrik
Janssen, Kirstin
Morling, Niels
Børsting, Claus
Olsen, Gunn-Hege
Andersen, Jeppe Dyrberg
author_facet Meyer, Olivia Strunge
Salvo, Nina Mjølsnes
Kjærbye, Anne
Kjersem, Marianne
Andersen, Mikkel Meyer
Sørensen, Erik
Ullum, Henrik
Janssen, Kirstin
Morling, Niels
Børsting, Claus
Olsen, Gunn-Hege
Andersen, Jeppe Dyrberg
author_sort Meyer, Olivia Strunge
collection PubMed
description Description of a perpetrator’s eye colour can be an important investigative lead in a forensic case with no apparent suspects. Herein, we present 11 SNPs (Eye Colour 11-EC11) that are important for eye colour prediction and eye colour prediction models for a two-category reporting system (blue and brown) and a three-category system (blue, intermediate, and brown). The EC11 SNPs were carefully selected from 44 pigmentary variants in seven genes previously found to be associated with eye colours in 757 Europeans (Danes, Swedes, and Italians). Mathematical models using three different reporting systems: a quantitative system (PIE-score), a two-category system (blue and brown), and a three-category system (blue, intermediate, brown) were used to rank the variants. SNPs with a sufficient mean variable importance (above 0.3%) were selected for EC11. Eye colour prediction models using the EC11 SNPs were developed using leave-one-out cross-validation (LOOCV) in an independent data set of 523 Norwegian individuals. Performance of the EC11 models for the two- and three-category system was compared with models based on the IrisPlex SNPs and the most important eye colour locus, rs12913832. We also compared model performances with the IrisPlex online tool (IrisPlex Web). The EC11 eye colour prediction models performed slightly better than the IrisPlex and rs12913832 models in all reporting systems and better than the IrisPlex Web in the three-category system. Three important points to consider prior to the implementation of eye colour prediction in a forensic genetic setting are discussed: (1) the reference population, (2) the SNP set, and (3) the reporting strategy.
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spelling pubmed-82278512021-06-26 Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set Meyer, Olivia Strunge Salvo, Nina Mjølsnes Kjærbye, Anne Kjersem, Marianne Andersen, Mikkel Meyer Sørensen, Erik Ullum, Henrik Janssen, Kirstin Morling, Niels Børsting, Claus Olsen, Gunn-Hege Andersen, Jeppe Dyrberg Genes (Basel) Article Description of a perpetrator’s eye colour can be an important investigative lead in a forensic case with no apparent suspects. Herein, we present 11 SNPs (Eye Colour 11-EC11) that are important for eye colour prediction and eye colour prediction models for a two-category reporting system (blue and brown) and a three-category system (blue, intermediate, and brown). The EC11 SNPs were carefully selected from 44 pigmentary variants in seven genes previously found to be associated with eye colours in 757 Europeans (Danes, Swedes, and Italians). Mathematical models using three different reporting systems: a quantitative system (PIE-score), a two-category system (blue and brown), and a three-category system (blue, intermediate, brown) were used to rank the variants. SNPs with a sufficient mean variable importance (above 0.3%) were selected for EC11. Eye colour prediction models using the EC11 SNPs were developed using leave-one-out cross-validation (LOOCV) in an independent data set of 523 Norwegian individuals. Performance of the EC11 models for the two- and three-category system was compared with models based on the IrisPlex SNPs and the most important eye colour locus, rs12913832. We also compared model performances with the IrisPlex online tool (IrisPlex Web). The EC11 eye colour prediction models performed slightly better than the IrisPlex and rs12913832 models in all reporting systems and better than the IrisPlex Web in the three-category system. Three important points to consider prior to the implementation of eye colour prediction in a forensic genetic setting are discussed: (1) the reference population, (2) the SNP set, and (3) the reporting strategy. MDPI 2021-05-27 /pmc/articles/PMC8227851/ /pubmed/34071952 http://dx.doi.org/10.3390/genes12060821 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Meyer, Olivia Strunge
Salvo, Nina Mjølsnes
Kjærbye, Anne
Kjersem, Marianne
Andersen, Mikkel Meyer
Sørensen, Erik
Ullum, Henrik
Janssen, Kirstin
Morling, Niels
Børsting, Claus
Olsen, Gunn-Hege
Andersen, Jeppe Dyrberg
Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set
title Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set
title_full Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set
title_fullStr Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set
title_full_unstemmed Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set
title_short Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set
title_sort prediction of eye colour in scandinavians using the eyecolour 11 (ec11) snp set
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227851/
https://www.ncbi.nlm.nih.gov/pubmed/34071952
http://dx.doi.org/10.3390/genes12060821
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