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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.

Original publication

DOI

10.1038/s41588-018-0100-5

Type

Journal article

Journal

Nat Genet

Publication Date

05/2018

Volume

50

Pages

652 - 656

Keywords

Aged, Chromosomes, Human, X, European Continental Ancestry Group, Female, Genetic Loci, Genome-Wide Association Study, Hair Color, Humans, Male, Middle Aged, Multifactorial Inheritance, Phenotype, Polymorphism, Single Nucleotide