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.

  • Brief Communication
  • Published:

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 via your institution

Access options

Buy this article

Purchase on Springer Link

Instant access to full article PDF

Prices may be subject to local taxes which are calculated during checkout

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

Similar content being viewed by others

References

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

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

    CAS  PubMed  PubMed Central  Google Scholar 

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

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

    Article  CAS  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

Authors and 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

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng.160

This article is cited by

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