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