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

Pirro G. Hysi, Ana M. Valdes, Fan Liu, Nicholas A. Furlotte, David M. Evans, Veronique Bataille, Alessia Visconti, Gibran Hemani, George McMahon, Susan M. Ring, George Davey Smith, David L. Duffy, Gu Zhu, Scott D. Gordon, Sarah E. Medland, Bochao D. Lin, Gonneke Willemsen, Jouke Jan Hottenga, Dragana Vuckovic, Giorgia Girotto & 24 others Ilaria Gandin, Cinzia Sala, Maria Pina Concas, Marco Brumat, Paolo Gasparini, Daniela Toniolo, Massimiliano Cocca, Antonietta Robino, Seyhan Yazar, Alex W. Hewitt, Yan Chen, Changqing Zeng, Andre G. Uitterlinden, M. Arfan Ikram, Merel A. Hamer, Cornelia M. Van Duijn, Tamar Nijsten, David A. MacKey, Mario Falchi, Dorret I. Boomsma, Nicholas G. Martin, David A. Hinds, Manfred Kayser, Timothy D. Spector

Research output: Contribution to JournalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)652-656
Number of pages5
JournalNature Genetics
Volume50
Issue number5
Early online date16 Apr 2018
DOIs
Publication statusPublished - May 2018

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Hair Color
Genome-Wide Association Study
Hair
Meta-Analysis
Melanins
X Chromosome
Population
Single Nucleotide Polymorphism
Phenotype

Keywords

  • Journal Article

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Hysi, Pirro G. ; Valdes, Ana M. ; 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 ; Concas, Maria Pina ; Brumat, Marco ; Gasparini, Paolo ; Toniolo, Daniela ; Cocca, Massimiliano ; Robino, Antonietta ; Yazar, Seyhan ; Hewitt, Alex W. ; Chen, Yan ; Zeng, Changqing ; Uitterlinden, Andre G. ; Ikram, M. Arfan ; 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. / Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability. In: Nature Genetics. 2018 ; Vol. 50, No. 5. pp. 652-656.
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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.",
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author = "Hysi, {Pirro G.} and Valdes, {Ana M.} and Fan Liu and Furlotte, {Nicholas A.} and Evans, {David M.} and Veronique Bataille and Alessia Visconti and Gibran Hemani and George McMahon and Ring, {Susan M.} and Smith, {George Davey} and Duffy, {David L.} and Gu Zhu and Gordon, {Scott D.} and Medland, {Sarah E.} and Lin, {Bochao D.} and Gonneke Willemsen and Hottenga, {Jouke Jan} and Dragana Vuckovic and Giorgia Girotto and Ilaria Gandin and Cinzia Sala and Concas, {Maria Pina} and Marco Brumat and Paolo Gasparini and Daniela Toniolo and Massimiliano Cocca and Antonietta Robino and Seyhan Yazar and Hewitt, {Alex W.} and Yan Chen and Changqing Zeng and Uitterlinden, {Andre G.} and Ikram, {M. Arfan} and Hamer, {Merel A.} and {Van Duijn}, {Cornelia M.} and Tamar Nijsten and MacKey, {David A.} and Mario Falchi and Boomsma, {Dorret I.} and Martin, {Nicholas G.} and Hinds, {David A.} and Manfred Kayser and Spector, {Timothy D.}",
year = "2018",
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pages = "652--656",
journal = "Nature Genetics",
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Hysi, PG, Valdes, AM, Liu, F, Furlotte, NA, Evans, DM, Bataille, V, Visconti, A, Hemani, G, McMahon, G, Ring, SM, Smith, GD, Duffy, DL, Zhu, G, Gordon, SD, Medland, SE, Lin, BD, Willemsen, G, Hottenga, JJ, Vuckovic, D, Girotto, G, Gandin, I, Sala, C, Concas, MP, Brumat, M, Gasparini, P, Toniolo, D, Cocca, M, Robino, A, Yazar, S, Hewitt, AW, Chen, Y, Zeng, C, Uitterlinden, AG, Ikram, MA, Hamer, MA, Van Duijn, CM, Nijsten, T, MacKey, DA, Falchi, M, Boomsma, DI, Martin, NG, Hinds, DA, Kayser, M & Spector, TD 2018, '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, vol. 50, no. 5, pp. 652-656. https://doi.org/10.1038/s41588-018-0100-5

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.; Valdes, Ana M.; 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; Concas, Maria Pina; Brumat, Marco; Gasparini, Paolo; Toniolo, Daniela; Cocca, Massimiliano; Robino, Antonietta; Yazar, Seyhan; Hewitt, Alex W.; Chen, Yan; Zeng, Changqing; Uitterlinden, Andre G.; Ikram, M. Arfan; 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.

In: Nature Genetics, Vol. 50, No. 5, 05.2018, p. 652-656.

Research output: Contribution to JournalArticleAcademicpeer-review

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T1 - Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability

AU - Hysi, Pirro G.

AU - Valdes, Ana M.

AU - Liu, Fan

AU - Furlotte, Nicholas A.

AU - Evans, David M.

AU - Bataille, Veronique

AU - Visconti, Alessia

AU - Hemani, Gibran

AU - McMahon, George

AU - Ring, Susan M.

AU - Smith, George Davey

AU - Duffy, David L.

AU - Zhu, Gu

AU - Gordon, Scott D.

AU - Medland, Sarah E.

AU - Lin, Bochao D.

AU - Willemsen, Gonneke

AU - Hottenga, Jouke Jan

AU - Vuckovic, Dragana

AU - Girotto, Giorgia

AU - Gandin, Ilaria

AU - Sala, Cinzia

AU - Concas, Maria Pina

AU - Brumat, Marco

AU - Gasparini, Paolo

AU - Toniolo, Daniela

AU - Cocca, Massimiliano

AU - Robino, Antonietta

AU - Yazar, Seyhan

AU - Hewitt, Alex W.

AU - Chen, Yan

AU - Zeng, Changqing

AU - Uitterlinden, Andre G.

AU - Ikram, M. Arfan

AU - Hamer, Merel A.

AU - Van Duijn, Cornelia M.

AU - Nijsten, Tamar

AU - MacKey, David A.

AU - Falchi, Mario

AU - Boomsma, Dorret I.

AU - Martin, Nicholas G.

AU - Hinds, David A.

AU - Kayser, Manfred

AU - Spector, Timothy D.

PY - 2018/5

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AB - 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.

KW - Journal Article

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