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