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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.


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.

SUBMITTER: Hysi PG 

PROVIDER: S-EPMC5935237 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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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.

Hysi Pirro G PG   Valdes Ana M AM   Liu Fan F   Furlotte Nicholas A NA   Evans David M DM   Bataille Veronique V   Visconti Alessia A   Hemani Gibran G   McMahon George G   Ring Susan M SM   Smith George Davey GD   Duffy David L DL   Zhu Gu G   Gordon Scott D SD   Medland Sarah E SE   Lin Bochao D BD   Willemsen Gonneke G   Jan Hottenga Jouke J   Vuckovic Dragana D   Girotto Giorgia G   Gandin Ilaria I   Sala Cinzia C   Concas Maria Pina MP   Brumat Marco M   Gasparini Paolo P   Toniolo Daniela D   Cocca Massimiliano M   Robino Antonietta A   Yazar Seyhan S   Hewitt Alex W AW   Chen Yan Y   Zeng Changqing C   Uitterlinden Andre G AG   Ikram M Arfan MA   Hamer Merel A MA   van Duijn Cornelia M CM   Nijsten Tamar T   Mackey David A DA   Falchi Mario M   Boomsma Dorret I DI   Martin Nicholas G NG   Hinds David A DA   Kayser Manfred M   Spector Timothy D TD  

Nature genetics 20180416 5


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 hai  ...[more]

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