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

Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2100 Copenhagen, Denmark
Centre for Forensic Genetics, Department of Medical Biology, UiT–The Arctic University of Norway, 9037 Tromsø, Norway
Department of Mathematical Sciences, Aalborg University, 9220 Aalborg, Denmark
Department of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark
Statens Serum Institut, 2300 Copenhagen, Denmark
Author to whom correspondence should be addressed.
These authors contributed equally.
Academic Editor: Fulvio Cruciani
Received: 12 May 2021 / Revised: 20 May 2021 / Accepted: 25 May 2021 / Published: 27 May 2021
(This article belongs to the Special Issue Advances in Forensic Genetics)
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. View Full-Text
Keywords: forensic genetics; eye colour; rs12913832; pigmentation; DNA phenotyping forensic genetics; eye colour; rs12913832; pigmentation; DNA phenotyping
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MDPI and ACS Style

Meyer, O.S.; Salvo, N.M.; Kjærbye, A.; Kjersem, M.; Andersen, M.M.; Sørensen, E.; Ullum, H.; Janssen, K.; Morling, N.; Børsting, C.; Olsen, G.-H.; Andersen, J.D. Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set. Genes 2021, 12, 821.

AMA Style

Meyer OS, Salvo NM, Kjærbye A, Kjersem M, Andersen MM, Sørensen E, Ullum H, Janssen K, Morling N, Børsting C, Olsen G-H, Andersen JD. Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set. Genes. 2021; 12(6):821.

Chicago/Turabian Style

Meyer, Olivia S., Nina M. Salvo, Anne Kjærbye, Marianne Kjersem, Mikkel M. Andersen, Erik Sørensen, Henrik Ullum, Kirstin Janssen, Niels Morling, Claus Børsting, Gunn-Hege Olsen, and Jeppe D. Andersen. 2021. "Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set" Genes 12, no. 6: 821.

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