Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation
Open accessAbstract
Objectives: The main goals of this study are to 1) quantitatively measure skin, hair, and iris pigmentation in a diverse sample of individuals, 2) describe variation within and between these samples, and 3) demonstrate how quantitative measures can facilitate genotype‐phenotype association tests. Materials and Methods: We quantitatively characterize skin, hair, and iris pigmentation using the Melanin (M) Index (skin) and CIELab values (hair) in 1,450 individuals who self‐identify as African American, East Asian, European, Hispanic, or South Asian. We also quantify iris pigmentation in a subset of these individuals using CIELab values from high‐resolution iris photographs. We compare mean skin M index and hair and iris CIELab values among populations using ANOVA and MANOVA respectively and test for genotype‐phenotype associations in the European sample. Results: All five populations are significantly different for skin (P <2 × 10−16) and hair color (P <2 × 10−16). Our quantitative analysis of iris and hair pigmentation reinforces the continuous, rather than discrete, nature of these traits. We confirm the association of three loci (rs16891982, rs12203592, and rs12913832) with skin pigmentation and four loci (rs12913832, rs12203592, rs12896399, and rs16891982) with hair pigmentation. Interestingly, the derived rs12203592 T allele located within the IRF4 gene is associated with lighter skin but darker hair color. Discussion: The quantitative methods used here provide a fine‐scale assessment of pigmentation phenotype and facilitate genotype‐phenotype associations, even with relatively small sample sizes. This represents an important expansion of current investigations into pigmentation phenotype and associated genetic variation by including non‐European and admixed populations. Am J Phys Anthropol 160:570–581, 2016. © 2015 Wiley Periodicals, Inc.
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Studies have demonstrated that skin color is, generally, not associated with other traits that have been used to characterize and classify human races.
“These studies and others have also demonstrated that skin color is, generally, not associated with other traits that have been used to characterize and classify human races.”
From Skin color and race (2021) · cites this paper as Norton et al., 2016
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Prediction of Eye, Hair and Skin Color in Admixed Populations of Latin AmericaPreprint
Palmal, S., Adhikari, K., Mendoza-Revilla, J., Fuentes-Guajardo, M., de Cerqueira, C. S. D., Chacón-Duque, J., Sohail, A., Hurtado, M., Villegas, V., Granja, V., et al. (2020) · bioRxiv · doi:10.1101/2020.12.09.415901 · Cited by 1 · see citing works
- Authors
- Norton, H. L., Edwards, M., Krithika, S., Johnson, M., Werren, E. A., & Parra, E. J.
- Affiliations
- University of Cincinnati (US)
- University of Toronto (CA)
- Corresponding author
- Norton, Heather L.
- Venue
- American Journal of Physical Anthropology
- Publisher
- Wiley
- Published
- 2015-09-10
- Volume
- 160
- Issue
- 4
- Pages
- 570-581
- ISSN
- 0002-9483 (ISSN-L)
- 1096-8644
- OpenAlex
- W2150828388
- Cited by
- 30
- References
- 62
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 4 · 2020: 4 · 2019: 2 · 2018: 2 · 2017: 7 · 2016: 3
- FWCI
- 2.13
- Type
- journal article
- Language
- en
- Open access
- green
- figshare.com
- Locations
- American Journal of Physical Anthropology (publishedVersion)
- PubMed (publishedVersion)
- Anglia Ruskin Research Online (Anglia Ruskin University) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Funders
- Canadian National Science Research Council (NSERC) (to E.J.P.), NSERC-CGS-D (to M.E.), and Department of Justice (to H.L.N. and E.J.P.) (2013-DNA-BX-K0111)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Keywords
- skin pigmentation, hair color, iris color, melanin index, CIELAB color values, genotype-phenotype correlation, IRF4, population variation, admixed populations, quantitative phenotyping
- MeSH terms
- Analysis of Variance, Anthropology, Physical, Eye Color, Hair Color, Humans, Skin Pigmentation, Linear Models, Polymorphism, Single Nucleotide, Racial Groups
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