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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.

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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

  1. deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.

    • Patrick Sulem
    • , Daniel F Gudbjartsson
    • , Simon N Stacey
    • , Agnar Helgason
    • , Thorunn Rafnar
    • , Margret Jakobsdottir
    • , Stacy Steinberg
    • , Sigurjon A Gudjonsson
    • , Arnar Palsson
    • , Gudmar Thorleifsson
    • , Snæbjörn Pálsson
    • , Jeffrey Gulcher
    • , Augustine Kong
    • , Unnur Thorsteinsdottir
    •  & Kari Stefansson
  2. Department of Dermatology, Landspitali-University Hospital, 101 Reykjavik, Iceland.

    • Bardur Sigurgeirsson
    • , Kristin Thorisdottir
    • , Kristrun R Benediktsdottir
    •  & Jon H Olafsson
  3. Department of Pathology, Landspitali-University Hospital, 101 Reykjavik, Iceland.

    • Bardur Sigurgeirsson
    • , Kristin Thorisdottir
    • , Kristrun R Benediktsdottir
    •  & Jon H Olafsson
  4. Department of Plastic Surgery, Landspitali-University Hospital, 101 Reykjavik, Iceland.

    • Kristin Thorisdottir
    •  & Rafn Ragnarsson
  5. Comprehensive Cancer Center, 6501 BG Nijmegen, The Netherlands.

    • Katja K Aben
    •  & Lambertus A Kiemeney
  6. Department of Epidemiology and Biostatistics, Radboud University, Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

    • Katja K Aben
    • , Sita H Vermeulen
    •  & Lambertus A Kiemeney
  7. Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA.

    • Alisa M Goldstein
    •  & Margaret A Tucker
  8. Department of Urology, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

    • Lambertus A Kiemeney

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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.

Competing interests

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

Corresponding authors

Correspondence to Daniel F Gudbjartsson or Kari Stefansson.

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    Supplementary Methods, Supplementary Figure 1 and Supplementary Tables 1–7

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DOI

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

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