Article abstract


Nature Genetics 39, 1443 - 1452 (2007)
Published online: 21 October 2007 | doi:10.1038/ng.2007.13

Genetic determinants of hair, eye and skin pigmentation in Europeans

Patrick Sulem1, Daniel F Gudbjartsson1, Simon N Stacey1, Agnar Helgason1, Thorunn Rafnar1, Kristinn P Magnusson1, Andrei Manolescu1, Ari Karason1, Arnar Palsson1, Gudmar Thorleifsson1, Margret Jakobsdottir1, Stacy Steinberg1, Snæbjörn Pálsson1, Fridbert Jonasson2, Bardur Sigurgeirsson3, Kristin Thorisdottir3,4, Rafn Ragnarsson4, Kristrun R Benediktsdottir5, Katja K Aben6, Lambertus A Kiemeney7,8, Jon H Olafsson3, Jeffrey Gulcher1, Augie Kong1, Unnur Thorsteinsdottir1 & Kari Stefansson1


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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  1. deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
  2. Department of Ophthalmology, Landspitali–University Hospital, Reykjavik, Iceland.
  3. Department of Dermatology, Landspitali–University Hospital, Reykjavik, Iceland.
  4. Department of Plastic Surgery, Landspitali–University Hospital, Reykjavik, Iceland.
  5. Department of Anatomopathology, Landspitali–University Hospital, Reykjavik, Iceland.
  6. Comprehensive Cancer Center East and Department of Epidemiology and Biostatistics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  7. Department of Epidemiology and Biostatistics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
  8. Department of Urology, Radboud University Nijmegen Medical Center, 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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