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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

Citation

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 and The International Visible Trait Genetics Consortium, 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, 50, (5) pp. 652-656. ISSN 1061-4036 (2018) [Refereed Article]

Copyright Statement

2018 Nature America Inc., part of Springer Nature

DOI: doi:10.1038/s41588-018-0100-5

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 Details

Item Type:Refereed Article
Keywords:autosome, European, gene locus, genetic variation, genome-wide association study, hair color, heritability
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Genome Structure and Regulation
Objective Division:Health
Objective Group:Specific Population Health (excl. Indigenous Health)
Objective Field:Specific Population Health (excl. Indigenous Health) not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:126981
Year Published:2018
Web of Science® Times Cited:14
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-07-05
Last Modified:2019-09-18
Downloads:0

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