The genetics of eye colours in an Italian population measured with an objective method for eye colour quantification.

Carlotta Pietroni; Jeppe Dyrberg Andersen; Peter Johansen; Stine Harder; Rasmus Reinhold Paulsen; Claus Børsting; Niels Morling

The genetics of eye colours in an Italian population measured with an objective method for eye colour quantification.

Carlotta Pietroni, Jeppe Dyrberg Andersen, Peter Johansen, Stine Harder, Rasmus Reinhold Paulsen, Claus Børsting, Niels Morling

1 Citationer (Scopus)

Abstract

Brown and blue eye colours are primarily explained by the single nucleotide polymorphism (SNP) HERC2 rs12913832. However, the genetics of eye colours that appear to be neither blue nor brown are not well understood. In this study, 230 unrelated Italian individuals were typed for 32 SNP loci in pigmentary genes. High resolution digital images of the participants' eyes were taken and the iris region was successfully extracted with the use of the custom designed software Digital Iris Analysis Tool (DIAT) from 218 of the 230 (95%) images. The software counted the numbers of blue and brown pixels in the iris region and calculated a Pixel Index of the Eye (PIE-score) that described the eye colours quantitatively. The PIE-score ranged from -1 to 1 (brown to blue). We investigated the association of the PIE-scores extracted from the eye images with the genotypes of the 32 pigmentary SNPs. We observed a statistically significant association between the PIE-scores and the SNP loci rs12913832, rs4778241, rs7495174 in the HERC2/. OCA2 region and the locus rs16891982 in SLC45A2.

Originalsprog	Dansk
Tidsskrift	Forensic Society International: Genetics Supplement Series
Sider (fra-til)	e23-e24
Antal sider	2
ISSN	1875-1768
Status	Udgivet - 2013
Begivenhed	25th: World Congress of the International Society for Forensic Genetics (ISFG) - Melbourne, Australien Varighed: 2 sep. 2013 → 7 sep. 2013

Konference

Konference	25th
Land/Område	Australien
By	Melbourne
Periode	02/09/2013 → 07/09/2013

Citationsformater

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title = "The genetics of eye colours in an Italian population measured with an objective method for eye colour quantification.",

abstract = "Brown and blue eye colours are primarily explained by the single nucleotide polymorphism (SNP) HERC2 rs12913832. However, the genetics of eye colours that appear to be neither blue nor brown are not well understood. In this study, 230 unrelated Italian individuals were typed for 32 SNP loci in pigmentary genes. High resolution digital images of the participants' eyes were taken and the iris region was successfully extracted with the use of the custom designed software Digital Iris Analysis Tool (DIAT) from 218 of the 230 (95%) images. The software counted the numbers of blue and brown pixels in the iris region and calculated a Pixel Index of the Eye (PIE-score) that described the eye colours quantitatively. The PIE-score ranged from -1 to 1 (brown to blue). We investigated the association of the PIE-scores extracted from the eye images with the genotypes of the 32 pigmentary SNPs. We observed a statistically significant association between the PIE-scores and the SNP loci rs12913832, rs4778241, rs7495174 in the HERC2/. OCA2 region and the locus rs16891982 in SLC45A2.",

author = "Carlotta Pietroni and Andersen, {Jeppe Dyrberg} and Peter Johansen and Stine Harder and Paulsen, {Rasmus Reinhold} and Claus B{\o}rsting and Niels Morling",

year = "2013",

language = "Dansk",

pages = "e23--e24",

journal = "Forensic Society International: Genetics Supplement Series",

issn = "1875-1768",

publisher = "Elsevier Ireland Ltd",

note = "25th : World Congress of the International Society for Forensic Genetics (ISFG) ; Conference date: 02-09-2013 Through 07-09-2013",

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TY - GEN

T1 - The genetics of eye colours in an Italian population measured with an objective method for eye colour quantification.

AU - Pietroni, Carlotta

AU - Andersen, Jeppe Dyrberg

AU - Johansen, Peter

AU - Harder, Stine

AU - Paulsen, Rasmus Reinhold

AU - Børsting, Claus

AU - Morling, Niels

PY - 2013

Y1 - 2013

N2 - Brown and blue eye colours are primarily explained by the single nucleotide polymorphism (SNP) HERC2 rs12913832. However, the genetics of eye colours that appear to be neither blue nor brown are not well understood. In this study, 230 unrelated Italian individuals were typed for 32 SNP loci in pigmentary genes. High resolution digital images of the participants' eyes were taken and the iris region was successfully extracted with the use of the custom designed software Digital Iris Analysis Tool (DIAT) from 218 of the 230 (95%) images. The software counted the numbers of blue and brown pixels in the iris region and calculated a Pixel Index of the Eye (PIE-score) that described the eye colours quantitatively. The PIE-score ranged from -1 to 1 (brown to blue). We investigated the association of the PIE-scores extracted from the eye images with the genotypes of the 32 pigmentary SNPs. We observed a statistically significant association between the PIE-scores and the SNP loci rs12913832, rs4778241, rs7495174 in the HERC2/. OCA2 region and the locus rs16891982 in SLC45A2.

AB - Brown and blue eye colours are primarily explained by the single nucleotide polymorphism (SNP) HERC2 rs12913832. However, the genetics of eye colours that appear to be neither blue nor brown are not well understood. In this study, 230 unrelated Italian individuals were typed for 32 SNP loci in pigmentary genes. High resolution digital images of the participants' eyes were taken and the iris region was successfully extracted with the use of the custom designed software Digital Iris Analysis Tool (DIAT) from 218 of the 230 (95%) images. The software counted the numbers of blue and brown pixels in the iris region and calculated a Pixel Index of the Eye (PIE-score) that described the eye colours quantitatively. The PIE-score ranged from -1 to 1 (brown to blue). We investigated the association of the PIE-scores extracted from the eye images with the genotypes of the 32 pigmentary SNPs. We observed a statistically significant association between the PIE-scores and the SNP loci rs12913832, rs4778241, rs7495174 in the HERC2/. OCA2 region and the locus rs16891982 in SLC45A2.

M3 - Konferenceartikel

SN - 1875-1768

SP - e23-e24

JO - Forensic Society International: Genetics Supplement Series

JF - Forensic Society International: Genetics Supplement Series

T2 - 25th

Y2 - 2 September 2013 through 7 September 2013

ER -