Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Two newly identified genetic determinants of pigmentation in Europeans

Abstract

We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics similar to those affected by well-known mutations in MC1R.

This is a preview of subscription content

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Figure 1: Estimates of odds ratio for haplotypes at ASIP and TPCN2.

References

  1. 1

    Sulem, P. et al. Nat. Genet. 39, 1443–1452 (2007).

    CAS  Article  Google Scholar 

  2. 2

    Rees, J.L. Am. J. Hum. Genet. 75, 739–751 (2004).

    CAS  Article  Google Scholar 

  3. 3

    Voisey, J. & van Daal, A. Pigment Cell Res. 15, 10–18 (2002).

    CAS  Article  Google Scholar 

  4. 4

    Schmutz, S.M., Berryere, T.G., Barta, J.L., Reddick, K.D. & Schmutz, J.K. J. Hered. 98, 351–355 (2007).

    CAS  Article  Google Scholar 

  5. 5

    Kanetsky, P.A. et al. Am. J. Hum. Genet. 70, 770–775 (2002).

    CAS  Article  Google Scholar 

  6. 6

    Landi, M.T. et al. J. Natl. Cancer Inst. 97, 998–1007 (2005).

    CAS  Article  Google Scholar 

  7. 7

    Meziani, R. et al. J. Dermatol. Sci. 40, 133–136 (2005).

    CAS  Article  Google Scholar 

  8. 8

    Norton, H.L. et al. Mol. Biol. Evol. 24, 710–722 (2007).

    CAS  Article  Google Scholar 

  9. 9

    Lamason, R.L. et al. Science 310, 1782–1786 (2005).

    CAS  Article  Google Scholar 

  10. 10

    Box, N.F. et al. Mamm. Genome 9, 50–53 (1998).

    CAS  Article  Google Scholar 

  11. 11

    Manga, P. et al. Am. J. Hum. Genet. 61, 1095–1101 (1997).

    CAS  Article  Google Scholar 

  12. 12

    Frudakis, T. et al. Genetics 165, 2071–2083 (2003).

    CAS  PubMed  PubMed Central  Google Scholar 

  13. 13

    International HapMap Consortium. Nature 437, 1299–1320 (2005).

  14. 14

    Fukai, K. et al. Nat. Genet. 9, 92–95 (1995).

    CAS  Article  Google Scholar 

Download references

Acknowledgements

This research was supported in part by the Intramural Research Program of the US National Institutes of Health National Cancer Institute.

Author information

Affiliations

Authors

Contributions

P.S., D.F.G., S.N.S. and K.S. wrote the first draft of the paper. S.N.S., B.S., K.T., R.R., K.R.B. and J.H.O. collected the Icelandic samples and phenotypes. S.N.S., M.J. and U.T. performed the genotyping. K.K.A., S.H.V. and L.A.K. collected the Dutch samples and phenotypes. P.S., D.F.G., A.H., S.S., S.A.G., A.P., G.T., and S.P. analyzed the data. P.S., D.F.G., S.N.S., T.R., A.M.G., M.A.T., L.A.K., J.H.O., J.G., A.K., U.T., K.S. planned, coordinated and supervised the work. All authors contributed to the final version of the paper.

Corresponding authors

Correspondence to Daniel F Gudbjartsson or Kari Stefansson.

Ethics declarations

Competing interests

The authors from deCODE own stock and stock options in the company.

Supplementary information

Supplementary Text and Figures

Supplementary Methods, Supplementary Figure 1 and Supplementary Tables 1–7 (PDF 223 kb)

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Sulem, P., Gudbjartsson, D., Stacey, S. et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 40, 835–837 (2008). https://doi.org/10.1038/ng.160

Download citation

Further reading

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing