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

Pirro 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 Danae Lin; Gonneke Willemsen; Jouke-Jan Hottenga; Dragana Vuckovic; Giorgia Girotto; Ilaria Gandin; Cinzia Sala; Marco Brumat; Paolo Gasparini; Toniolo Daniela; 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 E C Nijsten; David A. Mackey; Mario Falchi; Dorret I. Boomsma; Nicholas G. Martin; David A. Hinds; Manfred Kayser; Tim Spector

doi: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

Pirro 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 Danae Lin, Gonneke Willemsen, Jouke-Jan Hottenga, Dragana Vuckovic, Giorgia GirottoIlaria Gandin, Cinzia Sala, Marco Brumat, Paolo Gasparini, Toniolo Daniela, 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 E C Nijsten, David A. Mackey, Mario Falchi, Dorret I. Boomsma, Nicholas G. Martin, David A. Hinds, Manfred Kayser, Tim Spector

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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, SNPs 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 language	English
Pages (from-to)	652-656
Journal	Nature Genetics
Volume	50
Issue number	5
Early online date	16 Apr 2018
DOIs	https://doi.org/10.1038/s41588-018-0100-5
Publication status	Published - 1 May 2018

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Hysi, P., Valdes, A. M., Liu, F., Furlotte, N. A., Evans, D. M., Bataille, V., Visconti, A., Hemani, G., McMahon, G., Ring, S. M., Smith, G. D., Duffy, D. L., Zhu, G., Gordon, S. D., Medland, S. E., Danae Lin, B., Willemsen, G., Hottenga, J.-J., Vuckovic, D., ... Spector, T. (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, 50(5), 652-656. https://doi.org/10.1038/s41588-018-0100-5

@article{d00353564aa94e3d812da2cc9ad85980,

title = "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, SNPs 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. ",

author = "Pirro Hysi 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 {Danae Lin}, Bochao and Gonneke Willemsen and Jouke-Jan Hottenga and Dragana Vuckovic and Giorgia Girotto and Ilaria Gandin and Cinzia Sala and Marco Brumat and Paolo Gasparini and Toniolo Daniela 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 Nijsten, {Tamar E C} and Mackey, {David A.} and Mario Falchi and Boomsma, {Dorret I.} and Martin, {Nicholas G.} and Hinds, {David A.} and Manfred Kayser and Tim Spector",

year = "2018",

month = may,

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doi = "10.1038/s41588-018-0100-5",

language = "English",

volume = "50",

pages = "652--656",

journal = "Nature Genetics",

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Hysi, P, 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, Danae Lin, B, Willemsen, G, Hottenga, J-J, Vuckovic, D, Girotto, G, Gandin, I, Sala, C, Brumat, M, Gasparini, P, Daniela, T, Cocca, M, Robino, A, Yazar, S, Hewitt, AW, Chen, Y, Zeng, C, Uitterlinden, AG, Ikram, MA, Hamer, MA, van Duijn, CM, Nijsten, TEC, Mackey, DA, Falchi, M, Boomsma, DI, Martin, NG, Hinds, DA, Kayser, M & Spector, T 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

TY - JOUR

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

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 - Danae Lin, Bochao

AU - Willemsen, Gonneke

AU - Hottenga, Jouke-Jan

AU - Vuckovic, Dragana

AU - Girotto, Giorgia

AU - Gandin, Ilaria

AU - Sala, Cinzia

AU - Brumat, Marco

AU - Gasparini, Paolo

AU - Daniela, Toniolo

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 E C

AU - Mackey, David A.

AU - Falchi, Mario

AU - Boomsma, Dorret I.

AU - Martin, Nicholas G.

AU - Hinds, David A.

AU - Kayser, Manfred

AU - Spector, Tim

PY - 2018/5/1

Y1 - 2018/5/1

N2 - 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, SNPs 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.

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, SNPs 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.

U2 - 10.1038/s41588-018-0100-5

DO - 10.1038/s41588-018-0100-5

M3 - Letter

SN - 1061-4036

VL - 50

SP - 652

EP - 656

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -

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

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