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.
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Pigmentation variation has been characterized as relatively simple, with only a handful of SNPs highly predictive of skin, eye, and hair color across populations.
“The relative paucity of loci identified from GWAS efforts has led to the characterization of pigmentation variation as relatively simple, with only a handful of SNPs being highly predictive of skin, eye, and hair color across populations (Hart et al., 2013a; Spichenok et al., 2011; Walsh et al., 2013).”
From An Unexpectedly Complex Architecture for Skin Pigmentation in Africans (2017) · cites this paper as Spichenok et al., 2011
The forensic models based on only seven SNPs that claim very high prediction accuracy of skin color across populations (>99%) did not show a significant association with quantitatively measured M index (p=0.31).
“It is therefore unsurprising that when we applied forensic models based on only seven SNPs that claim very high prediction accuracy of skin color across populations (>99%) (Hart et al., 2013b; Spichenok et al., 2011), we did not find a significant association with quantitatively measured M index (p=0.31, Figure S5B).”
From An Unexpectedly Complex Architecture for Skin Pigmentation in Africans (2017) · cites this paper as Spichenok et al., 2011
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References 39 · Cited by 121
- Authors
- Spichenok, O., Budimlija, Z. M., Mitchell, A. A., Jenny, A., Kovacevic, L., Marjanovic, D., Caragine, T., Prinz, M., & Wurmbach, E.
- Affiliations
- Office of Chief Medical Examiner (US)
- Albert Einstein College of Medicine (US)
- Venue
- Forensic Science International: Genetics
- Publisher
- Elsevier BV
- Published
- 2011-11
- Volume
- 5
- Issue
- 5
- Pages
- 472-478
- ISSN
- 1872-4973 (ISSN-L)
- OpenAlex
- W2136102082
- Semantic Scholar
- e43adf25f7b360ea71ff0a9637e76955a831f091
- Cited by
- 121
- References
- 39
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 4 · 2023: 6 · 2022: 11 · 2021: 9 · 2020: 9 · 2019: 10 · 2018: 15 · 2017: 7 · 2016: 5 · 2015: 8 · 2014: 11 · 2013: 8 · 2012: 8
- FWCI
- 3.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Forensic Science International Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Social Sciences › Arts and Humanities › Archeology › Forensic Anthropology and Bioarchaeology Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Keywords
- eye color prediction, single nucleotide polymorphisms, pigmentation genes, personal identification, skeletal remains, forensic genetics, genetic markers, population variation
- MeSH terms
- Animals, Base Sequence, DNA, Eye Color, Genetics, Population, Humans, Molecular Sequence Data, Sequence Homology, Nucleic Acid, Skin Pigmentation, Polymerase Chain Reaction, Polymorphism, Single Nucleotide
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