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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

Hysi, PG, Valdes, AM, Liu, F, Furlotte, NA, Evans, DM, Bataille, V, Visconti, A, Hemani, G, McMahon, G, Ring, SM, Smith, GD, Duffy, DL, Zhu, G, Gordon, SD, Medland, SE, Lin, BD, Willemsen, G, Jan Hottenga, J, Vuckovic, D, Girotto, G, Gandin, I, Sala, C, Concas, MP, Brumat, M, Gasparini, P, Toniolo, D, Cocca, M, Robino, A, Yazar, S, Hewitt, AW ORCID: 0000-0002-5123-5999, Chen, Y, Zeng, C, Uitterlinden, AG, Ikram, MA, Hamer, MA, Van Duijn, CM, Nijsten, T, Mackey, DA, Falchi, M, Boomsma, DI, Martin, NG, Hinds, DA, Kayser, M and Spector, TD 2018 , 'Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability' , Nature Genetics, vol. 50, no. 5 , pp. 652-656 , doi: 10.1038/s41588-018-0100-5.

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Abstract

Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations. These results confirm the polygenic nature of complex phenotypes and improve our understanding of melanin pigment metabolism in humans.

Item Type: Article
Authors/Creators:Hysi, PG and Valdes, AM and Liu, F and Furlotte, NA and Evans, DM and Bataille, V and Visconti, A and Hemani, G and McMahon, G and Ring, SM and Smith, GD and Duffy, DL and Zhu, G and Gordon, SD and Medland, SE and Lin, BD and Willemsen, G and Jan Hottenga, J and Vuckovic, D and Girotto, G and Gandin, I and Sala, C and Concas, MP and Brumat, M and Gasparini, P and Toniolo, D and Cocca, M and Robino, A and Yazar, S and Hewitt, AW and Chen, Y and Zeng, C and Uitterlinden, AG and Ikram, MA and Hamer, MA and Van Duijn, CM and Nijsten, T and Mackey, DA and Falchi, M and Boomsma, DI and Martin, NG and Hinds, DA and Kayser, M and Spector, TD
Journal or Publication Title: Nature Genetics
Publisher: Nature Publishing Group
ISSN: 1061-4036
DOI / ID Number: 10.1038/s41588-018-0100-5
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© 2018 Nature America Inc., part of Springer Nature

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