Brief Communication abstract


Nature Genetics 40, 835 - 837 (2008)
Published online: 18 May 2008 | doi:10.1038/ng.160

Two newly identified genetic determinants of pigmentation in Europeans

Patrick Sulem1, Daniel F Gudbjartsson1, Simon N Stacey1, Agnar Helgason1, Thorunn Rafnar1, Margret Jakobsdottir1, Stacy Steinberg1, Sigurjon A Gudjonsson1, Arnar Palsson1, Gudmar Thorleifsson1, Snæbjörn Pálsson1, Bardur Sigurgeirsson2,3, Kristin Thorisdottir2,3,4, Rafn Ragnarsson4, Kristrun R Benediktsdottir2,3, Katja K Aben5,6, Sita H Vermeulen6, Alisa M Goldstein7, Margaret A Tucker7, Lambertus A Kiemeney5,6,8, Jon H Olafsson2,3, Jeffrey Gulcher1, Augustine Kong1, Unnur Thorsteinsdottir1 & Kari Stefansson1

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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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  1. deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
  2. Department of Dermatology, Landspitali-University Hospital, 101 Reykjavik, Iceland.
  3. Department of Pathology, Landspitali-University Hospital, 101 Reykjavik, Iceland.
  4. Department of Plastic Surgery, Landspitali-University Hospital, 101 Reykjavik, Iceland.
  5. Comprehensive Cancer Center, 6501 BG Nijmegen, The Netherlands.
  6. Department of Epidemiology and Biostatistics, Radboud University, Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.
  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.
  8. Department of Urology, Radboud University Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands.

Correspondence to: Daniel F Gudbjartsson1 e-mail: daniel.gudbjartsson@decode.is

Correspondence to: Kari Stefansson1 e-mail: kstefans@decode.is



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