Prediction of eye and skin color in diverse populations using seven SNPs

Olga Spichenok; Zoran M. Budimlija; Adele A. Mitchell; Andreas Jenny; Lejla Kovacevic; Damir Marjanovic; Theresa Caragine; Mechthild Prinz; Elisa Wurmbach

doi:10.1016/j.fsigen.2010.10.005

Prediction of eye and skin color in diverse populations using seven SNPs

Olga Spichenok
, Zoran M. Budimlija
, Adele A. Mitchell
, Andreas Jenny
, Lejla Kovacevic
, Damir Marjanovic
, Theresa Caragine
, Mechthild Prinz
, Elisa Wurmbach

Developmental & Molecular Biology

Research output: Contribution to journal › Article › peer-review

103 Scopus citations

Abstract

An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics. In this study, seven single nucleotide polymorphisms (SNPs), located in and nearby genes known for their important role in pigmentation, were validated on 554 samples, donated from non-related individuals of various populations. Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration. The outcome revealed that these markers can be applied to all populations with very low error rates. However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests.

Original language	English (US)
Pages (from-to)	472-478
Number of pages	7
Journal	Forensic Science International: Genetics
Volume	5
Issue number	5
DOIs	https://doi.org/10.1016/j.fsigen.2010.10.005
State	Published - Nov 2011

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Eye color
Identification of human remains
Pigmentation
SNPs
Skin color

ASJC Scopus subject areas

Pathology and Forensic Medicine
Genetics

Access to Document

10.1016/j.fsigen.2010.10.005

Cite this

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title = "Prediction of eye and skin color in diverse populations using seven SNPs",

abstract = "An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics. In this study, seven single nucleotide polymorphisms (SNPs), located in and nearby genes known for their important role in pigmentation, were validated on 554 samples, donated from non-related individuals of various populations. Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration. The outcome revealed that these markers can be applied to all populations with very low error rates. However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests.",

keywords = "Eye color, Identification of human remains, Pigmentation, SNPs, Skin color",

author = "Olga Spichenok and Budimlija, \{Zoran M.\} and Mitchell, \{Adele A.\} and Andreas Jenny and Lejla Kovacevic and Damir Marjanovic and Theresa Caragine and Mechthild Prinz and Elisa Wurmbach",

note = "Funding Information: The authors would like to thank Dr. Grace Axler-DiPerte, Gloria Wan, and Amanjot Singh for their help in collecting samples. The authors are very grateful of the support of Mimi Mairs, Esq., who helped establishing the project. This work was funded by New York City Office of Chief Medical Examiner .",

year = "2011",

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doi = "10.1016/j.fsigen.2010.10.005",

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AU - Spichenok, Olga

AU - Budimlija, Zoran M.

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AU - Jenny, Andreas

AU - Kovacevic, Lejla

AU - Marjanovic, Damir

AU - Caragine, Theresa

AU - Prinz, Mechthild

AU - Wurmbach, Elisa

N1 - Funding Information: The authors would like to thank Dr. Grace Axler-DiPerte, Gloria Wan, and Amanjot Singh for their help in collecting samples. The authors are very grateful of the support of Mimi Mairs, Esq., who helped establishing the project. This work was funded by New York City Office of Chief Medical Examiner .

PY - 2011/11

Y1 - 2011/11

N2 - An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics. In this study, seven single nucleotide polymorphisms (SNPs), located in and nearby genes known for their important role in pigmentation, were validated on 554 samples, donated from non-related individuals of various populations. Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration. The outcome revealed that these markers can be applied to all populations with very low error rates. However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests.

AB - An essential component in identifying human remains is the documentation of the decedent's visible characteristics, such as eye, hair and skin color. However, if a decedent is decomposed or only skeletal remains are found, this critical, visibly identifying information is lost. It would be beneficial to use genetic information to reveal these visible characteristics. In this study, seven single nucleotide polymorphisms (SNPs), located in and nearby genes known for their important role in pigmentation, were validated on 554 samples, donated from non-related individuals of various populations. Six SNPs were used in predicting the eye color of an individual, and all seven were used to describe the skin coloration. The outcome revealed that these markers can be applied to all populations with very low error rates. However, the call-rate to determine the skin coloration varied between populations, demonstrating its complexity. Overall, these results prove the importance of these seven SNPs for potential forensic tests.

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KW - Identification of human remains

KW - Pigmentation

KW - SNPs

KW - Skin color

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Prediction of eye and skin color in diverse populations using seven SNPs

Abstract

UN SDGs

Keywords

ASJC Scopus subject areas

Access to Document

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