TY - JOUR

T1 - Perception of blue and brown eye colours for forensic DNA phenotyping

AU - Meyer, Olivia S.

AU - Børsting, Claus

AU - Andersen, Jeppe D.

PY - 2019/12

Y1 - 2019/12

N2 - Eye colour is a prominent visible trait in Europeans and is of significance in forensic genetics. Eye colour is most commonly categorised in a three-category system comprising brown, intermediate, and blue eye colours. However, the general perception of eye colour categories has not been explored. Here, we categorised eye colour based on the subjective evaluation of 442 digital close-up photos of eyes assessed by 30 Danish volunteers. The participants were asked to categorise each eye in a three-category (brown, intermediate, blue) and a two-category (brown, blue) system. We found that the two-category system corresponded best with the perception of eye colour. Disagreements in the eye colour categorisation by at least 10% of the participants were observed for 33% of the eye pictures using the three-category system. In comparison, only 10% of the pictures were categorised differently by at least 10% of participants when using the two-category system. The genetic basis for distinction between blue and brown eye colour primarily depends on a single SNP, rs12913832. Likelihood ratios based on the genotype of rs12913832 and the two-category system were: LR = P(rs12913832:GG|brown)/P(rs12913832:GG|blue) = 0.1, LR = P(rs12913832:AA|brown)/P(rs12913832:AA|blue) = 54, and LR = P(rs12913832:GA|brown)/P(rs12913832:GA|blue) = 19. This SNP is included in the Precision ID Ancestry panel used for ancestry inference, which enables genetic ancestry profiles to be accompanied by prediction of blue or brown eye colour.

AB - Eye colour is a prominent visible trait in Europeans and is of significance in forensic genetics. Eye colour is most commonly categorised in a three-category system comprising brown, intermediate, and blue eye colours. However, the general perception of eye colour categories has not been explored. Here, we categorised eye colour based on the subjective evaluation of 442 digital close-up photos of eyes assessed by 30 Danish volunteers. The participants were asked to categorise each eye in a three-category (brown, intermediate, blue) and a two-category (brown, blue) system. We found that the two-category system corresponded best with the perception of eye colour. Disagreements in the eye colour categorisation by at least 10% of the participants were observed for 33% of the eye pictures using the three-category system. In comparison, only 10% of the pictures were categorised differently by at least 10% of participants when using the two-category system. The genetic basis for distinction between blue and brown eye colour primarily depends on a single SNP, rs12913832. Likelihood ratios based on the genotype of rs12913832 and the two-category system were: LR = P(rs12913832:GG|brown)/P(rs12913832:GG|blue) = 0.1, LR = P(rs12913832:AA|brown)/P(rs12913832:AA|blue) = 54, and LR = P(rs12913832:GA|brown)/P(rs12913832:GA|blue) = 19. This SNP is included in the Precision ID Ancestry panel used for ancestry inference, which enables genetic ancestry profiles to be accompanied by prediction of blue or brown eye colour.

KW - Eye colour

KW - Forensic genetics

KW - Phenotyping

KW - rs12913832

U2 - 10.1016/j.fsigss.2019.10.057

DO - 10.1016/j.fsigss.2019.10.057

M3 - Journal article

AN - SCOPUS:85074368131

VL - 7

SP - 476

EP - 477

JO - Forensic Science International: Genetics. Supplement Series

JF - Forensic Science International: Genetics. Supplement Series

SN - 1875-1768

IS - 1

ER -