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Nat Genet. 2018 May;50(5):652-656. doi: 10.1038/s41588-018-0100-5. Epub 2018 Apr 16.

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

Author information

1
King's College London Department of Twins Research and Genetic Epidemiology, London, UK.
2
Department of Ophthalmology, King's College London, London, UK.
3
Division of Rheumatology, Orthopaedics and Dermatology, School of Medicine, University of Nottingham, Nottingham, UK.
4
Nottingham NIHR Biomedical Research Centre, Nottingham, United Kingdom.
5
CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, PR China.
6
University of Chinese Academy of Sciences, Beijing, PR China.
7
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
8
23andMe, Inc., Mountain View, CA, USA.
9
University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD, Australia.
10
MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
11
QIMR Berghofer Medical Research Institute, Brisbane, Australia.
12
Netherlands Twin Register, Department of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands.
13
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
14
Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
15
Division of Genetics and Cell Biology, San Faffaele Research Institute, Milano, Italy.
16
Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, WA, Australia.
17
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, UK.
18
Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
19
School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia.
20
Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
21
Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
22
Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
23
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. m.kayser@erasmusmc.nl.
24
King's College London Department of Twins Research and Genetic Epidemiology, London, UK. tim.spector@kcl.ac.uk.

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.

PMID:
29662168
PMCID:
PMC5935237
DOI:
10.1038/s41588-018-0100-5
[Indexed for MEDLINE]
Free PMC Article

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