The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA
Open accessAbstract
Recently, the field of predicting phenotypes of externally visible characteristics (EVCs) from DNA genotypes with the final aim of concentrating police investigations to find persons completely unknown to investigating authorities, also referred to as Forensic DNA Phenotyping (FDP), has started to become established in forensic biology. We previously developed and forensically validated the IrisPlex system for accurate prediction of blue and brown eye colour from DNA, and recently showed that all major hair colour categories are predictable from carefully selected DNA markers. Here, we introduce the newly developed HIrisPlex system, which is capable of simultaneously predicting both hair and eye colour from DNA. HIrisPlex consists of a single multiplex assay targeting 24 eye and hair colour predictive DNA variants including all 6 IrisPlex SNPs, as well as two prediction models, a newly developed model for hair colour categories and shade, and the previously developed IrisPlex model for eye colour. The HIrisPlex assay was designed to cope with low amounts of template DNA, as well as degraded DNA, and preliminary sensitivity testing revealed full DNA profiles down to 63pg input DNA. The power of the HIrisPlex system to predict hair colour was assessed in 1551 individuals from three different parts of Europe showing different hair colour frequencies. Using a 20% subset of individuals, while 80% were used for model building, the individual-based prediction accuracies employing a prediction-guided approach were 69.5% for blond, 78.5% for brown, 80% for red and 87.5% for black hair colour on average. Results from HIrisPlex analysis on worldwide DNA samples imply that HIrisPlex hair colour prediction is reliable independent of bio-geographic ancestry (similar to previous IrisPlex findings for eye colour). We furthermore demonstrate that it is possible to infer with a prediction accuracy of >86% if a brown-eyed, black-haired individual is of non-European (excluding regions nearby Europe) versus European (including nearby regions) bio-geographic origin solely from the strength of HIrisPlex eye and hair colour probabilities, which can provide extra intelligence for future forensic applications. The HIrisPlex system introduced here, including a single multiplex test assay, an interactive tool and prediction guide, and recommendations for reporting final outcomes, represents the first tool for simultaneously establishing categorical eye and hair colour of a person from DNA. The practical forensic application of the HIrisPlex system is expected to benefit cases where other avenues of investigation, including STR profiling, provide no leads on who the unknown crime scene sample donor or the unknown missing person might be.
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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 Walsh et al., 2013
Pigmentation has been described previously as a relatively simple trait with few loci of large effect contributing to the phenotype.
“Pigmentation has been described previously as a relatively simple trait with few loci of large effect contributing to the phenotype (Sulem et al., 2007; Walsh et al., 2013).”
From An Unexpectedly Complex Architecture for Skin Pigmentation in Africans (2017) · cites this paper as Walsh et al., 2013
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- Authors
- Walsh, S., Liu, F., Wollstein, A., Kovatsi, L., Ralf, A., Kosiniak-Kamysz, A., Branicki, W., & Kayser, M.
- Affiliations
- Erasmus MC (NL)
- Aristotle University of Thessaloniki (GR)
- Jagiellonian University (PL)
- Corresponding author
- Kayser, Manfred
- Venue
- Forensic Science International Genetics
- Publisher
- Elsevier BV
- Published
- 2013-01
- Volume
- 7
- Issue
- 1
- Pages
- 98-115
- ISSN
- 1872-4973 (ISSN-L)
- OpenAlex
- W2093982068
- Cited by
- 428
- References
- 64
- Citations by year
- 2026: 27 · 2025: 25 · 2024: 27 · 2023: 28 · 2022: 31 · 2021: 40 · 2020: 36 · 2019: 32 · 2018: 37 · 2017: 29 · 2016: 27 · 2015: 37 · 2014: 31 · 2013: 19 · 2012: 1
- FWCI
- 16.84
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Forensic Science International Genetics (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Jagiellonian University Repository (Jagiellonian University) (submittedVersion, cc-by-nc-nd)
- Homo Politicus (Academy of Humanities and Economics in Lodz) (submittedVersion, cc-by-nc-nd)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Netherlands Forensic Institute (NFI)
- Netherlands Genomics Initiative (NGI)
- Netherlands Organization for Scientific Research (NWO)
- Ministry of Science and Higher Education in Poland (ON301115136)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- forensic DNA phenotyping, multiplex PCR, degraded DNA, low-template DNA, prediction model, prediction accuracy, European populations, non-European populations, red hair, black hair
- MeSH terms
- Base Sequence, DNA, Eye Color, Genotype, Hair Color, Humans, DNA Primers, Forensic Genetics
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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