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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

Authors :
Valdes, Ana M.
Hysi, Pirro G.
Liu, Fan
Furlotte, Nicholas A.
Evans, David M.
Bataille, Veronique
Visconti, Alessia
Hemani, Gibran
McMahon, George
Ring, Susan M.
Smith, George Davey
Duffy, David L.
Zhu, Gu
Gordon, Scott D.
Medland, Sarah E.
Lin, Bochao D.
Willemsen, Gonneke
Hottenga, Jouke Jan
Vuckovic, Dragana
Girotto, Giorgia
Gandin, Ilaria
Sala, Cinzia
Pina Concas, Maria
Brumat, Marco
Gasparini, Paolo
Toniolo, Daniela
Cocca, Massimiliano
Robino, Antonietta
Yazar, Seyhan
Hewitt, Alex W.
Chen, Yan
Zeng, Changqing
Uitterlinden, Andre G.
Arfan Ikram, M.
Hamer, Merel A.
van Duijn, Cornelia M.
Nijsten, Tamar
Mackey, David A.
Falchi, Mario
Boomsma, Dorret I.
Martin, Nicholas G.
Hinds, David A.
Kayser, Manfred
Spector, Timothy D.
International Visible Trait Genetics Consortium
Publication Year :
2018
Publisher :
Nature Publishing Group, 2018.

Abstract

© 2018 The Author(s). 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.

Subjects

Subjects :
integumentary system
sense organs

Details

Language :
English
ISSN :
10614036 and 15461718
Database :
OpenAIRE
Accession number :
edsair.core.ac.uk....06a6554ce45dcbfea8d30fd59bde4a9b