Genetic determinants of hair, eye and skin pigmentation in Europeans
Abstract
Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions--four not previously implicated in the normal variation of human pigmentation--and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.
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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 Sulem et al., 2007
Two other SNPs, rs916977 and rs1667394, have previously been associated with blue eyes.
“Two other SNPs, rs916977 and rs1667394, have previously been associated with blue eyes (Kayser et al. 2008; Sulem et al. 2007).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Sulem et al. 2007
One HERC2 SNP rs1667394 has been associated with blond hair in Europeans.
“One of the HERC2 SNPs (rs1667394) has been associated with blond hair in Europeans (Sulem et al. 2007).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Sulem et al. 2007
rs1667394 is located in an intron of HERC2 near the OCA2 gene, the major locus determining eye color, and has been reproducibly associated with eye color.
“rs1667394 is located in an intron of HERC2 near the OCA2 gene, the major locus determining eye color and this SNP has been reproducibly associated with eye color [13].”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [13]
rs1042602 is associated with freckles in Europeans but the study does not find evidence for its association with skin pigmentation (p = 0.3).
“It is associated with freckles in Europeans [13] but we do not find evidence for its association with skin pigmentation in our study (p = 0.3).”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [13]
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- Authors
- Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., Pálsson, S., Jonasson, F., Sigurgeirsson, B., Thorisdottir, K., Ragnarsson, R., Benediktsdottir, K. R., Aben, K. K., Kiemeney, L. A., Olafsson, J. H., Gulcher, J., Kong, A., Thorsteinsdottir, U., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- National University Hospital of Iceland (IS)
- Radboud University Nijmegen (NL)
- Corresponding author
- Gudbjartsson, Daniel F
- ORCID
- Venue
- Nature Genetics
- Published
- 2007-10-21
- Volume
- 39
- Issue
- 12
- Pages
- 1443-1452
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2095970568
- Cited by
- 750
- References
- 53
- Citations by year
- 2026: 17 · 2025: 18 · 2024: 26 · 2023: 26 · 2022: 39 · 2021: 50 · 2020: 36 · 2019: 36 · 2018: 43 · 2017: 40 · 2016: 43 · 2015: 36 · 2014: 48 · 2013: 42 · 2012: 46
- FWCI
- 21.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- 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 › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- human pigmentation, hair color, eye color, skin color, freckles, SLC24A4, stem cell factor, TYR, OCA2, MC1R, genetic variants, Icelanders, Europeans, sunburn susceptibility
- MeSH terms
- Eye Color, Female, Hair Color, Humans, Iceland, Male, Netherlands, Skin Pigmentation, Monophenol Monooxygenase, Antiporters, Stem Cell Factor, Polymorphism, Single Nucleotide, Membrane Transport Proteins, Receptor, Melanocortin, Type 1, White People
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