Genetic determinants of hair, eye and skin pigmentation in Europeans

@article{Sulem2007GeneticDO,
  title={Genetic determinants of hair, eye and skin pigmentation in Europeans},
  author={Patrick Sulem and Daniel Fannar Gudbjartsson and Simon N. Stacey and Agnar Helgason and Thorunn Rafnar and Kristinn P{\'e}tur Magn{\'u}sson and Andrei Manolescu and Ari K{\'a}rason and Arnar P{\'a}lsson and Gudmar Thorleifsson and Margret Jakobsdottir and Stacy Steinberg and Sn{\ae}bj{\"o}rn P{\'a}lsson and Fridbert J{\'o}nasson and B{\'a}rdur Sigurgeirsson and Kristin Thorisdottir and Rafn Ragnarsson and Kristrun R. Benediktsdottir and Katja K. H. Aben and Lambertus A.L.M. Kiemeney and J{\'o}n Hjaltal{\'i}n {\'O}lafsson and Jeffrey R. Gulcher and Augie Kong and Unnur Thorsteinsd{\'o}ttir and K{\'a}ri Stef{\'a}nsson},
  journal={Nature Genetics},
  year={2007},
  volume={39},
  pages={1443-1452}
}
Hair, skin and eye colors are highly heritable and visible traits in humans. [] Key Method 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…

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A regulatory region of the KITLG gene (encoding KIT ligand) that is significantly associated with common blond hair color in northern Europe is dissect, confirming that altered regulation of an essential growth factor contributes to the classic blond hair phenotype found in northern Europeans.

A large Canadian cohort provides insights into the genetic architecture of human hair colour

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Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

A new region downstream of the EDNRB gene on 13q22 associated with hair color and the strongest association was the single-nucleotide polymorphism (SNP) rs975739, and a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color was identified.
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