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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

journal contribution
posted on 2023-05-19, 19:18 authored by 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, Alexander HewittAlexander Hewitt, Chen, Y, Zeng, C, Uitterlinden, AG, Ikram, MA, Hamer, MA, van Duijn, CM, Nijsten, T, David MackeyDavid Mackey, Falchi, M, Boomsma, DI, Martin, NG, Hinds, DA, Kayser, M, Spector, TD
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.

History

Publication title

Nature Genetics

Volume

50

Issue

5

Pagination

652-656

ISSN

1061-4036

Department/School

Menzies Institute for Medical Research

Publisher

Nature Publishing Group

Place of publication

345 Park Ave South, New York, USA, Ny, 10010-1707

Rights statement

© 2018 Nature America Inc., part of Springer Nature

Repository Status

  • Restricted

Socio-economic Objectives

Specific population health (excl. Indigenous health) not elsewhere classified