Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

Michael D. Morgan; Erola Pairo-Castineira; Konrad Rawlik; Oriol Canela-Xandri; Jonathan Rees; David Sims; Albert Tenesa; Ian J. Jackson

doi:10.1038/s41467-018-07691-z

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

Michael D. Morgan, Erola Pairo-Castineira, Konrad Rawlik, Oriol Canela-Xandri, Jonathan Rees, David Sims, Albert Tenesa, Ian J. Jackson^* (Corresponding Author)

^*Corresponding author for this work

Medical Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

Natural hair colour within European populations is a complex genetic trait. Previous work has established that MC1R variants are the principal genetic cause of red hair colour, but with variable penetrance. Here, we have extensively mapped the genes responsible for hair colour in the white, British ancestry, participants in UK Biobank. MC1R only explains 73% of the SNP heritability for red hair in UK Biobank, and in fact most individuals with two MC1R variants have blonde or light brown hair. We identify other genes contributing to red hair, the combined effect of which accounts for ~90% of the SNP heritability. Blonde hair is associated with over 200 genetic variants and we find a continuum from black through dark and light brown to blonde and account for 73% of the SNP heritability of blonde hair. Many of the associated genes are involved in hair growth or texture, emphasising the cellular connections between keratinocytes and melanocytes in the determination of hair colour.

Original language	English
Article number	5271
Journal	Nature Communications
Volume	9
DOIs	https://doi.org/10.1038/s41467-018-07691-z
Publication status	Published - 10 Dec 2018

Bibliographical note

This work was carried out under UK Biobank study number 7206. It was funded by MRC core support to the Human Genetics Unit and to the Computational Genomics Analysis and Training programme through grant G1000902 and by BBSRC funding through Strategic Grant funding to the Roslin Institute BB/P013759/1 and BB/P013732/1. We
would like to thank Sebastian Luna-Valero for extensive systems admin support and the other members of the CGAT programme for numerous robust and constructive
discussions

Data Availability Statement

Summary statistics can be obtained on request from the authors. The raw genetic
and phenotypic data that support the findings of this study are available from UK
Biobank, but restrictions apply to the availability of these data, which were used
under licence for the current study, and so are not publicly available. Data are,
however, available from the authors on reasonable request and with permission
from UK Biobank (http://www.ukbiobank.ac.uk). A Reporting Summary for this
Article is available as a Supplementary Information file.

Keywords

Genome-wide association studies
Genetics
Genetic association study

Access to Document

10.1038/s41467-018-07691-zLicence: CC BY

Morgan_etal_NCGenome-wide_study_of_VOR
s This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Final published version, 1 MBLicence: CC BY

Cite this

@article{3d8c28c8ac9d4996b5acae0c7e5629dd,

title = "Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability",

abstract = "Natural hair colour within European populations is a complex genetic trait. Previous work has established that MC1R variants are the principal genetic cause of red hair colour, but with variable penetrance. Here, we have extensively mapped the genes responsible for hair colour in the white, British ancestry, participants in UK Biobank. MC1R only explains 73% of the SNP heritability for red hair in UK Biobank, and in fact most individuals with two MC1R variants have blonde or light brown hair. We identify other genes contributing to red hair, the combined effect of which accounts for ~90% of the SNP heritability. Blonde hair is associated with over 200 genetic variants and we find a continuum from black through dark and light brown to blonde and account for 73% of the SNP heritability of blonde hair. Many of the associated genes are involved in hair growth or texture, emphasising the cellular connections between keratinocytes and melanocytes in the determination of hair colour.",

keywords = "Genome-wide association studies, Genetics, Genetic association study",

author = "Morgan, {Michael D.} and Erola Pairo-Castineira and Konrad Rawlik and Oriol Canela-Xandri and Jonathan Rees and David Sims and Albert Tenesa and Jackson, {Ian J.}",

note = "This work was carried out under UK Biobank study number 7206. It was funded by MRC core support to the Human Genetics Unit and to the Computational Genomics Analysis and Training programme through grant G1000902 and by BBSRC funding through Strategic Grant funding to the Roslin Institute BB/P013759/1 and BB/P013732/1. We would like to thank Sebastian Luna-Valero for extensive systems admin support and the other members of the CGAT programme for numerous robust and constructive discussions",

year = "2018",

month = dec,

day = "10",

doi = "10.1038/s41467-018-07691-z",

language = "English",

volume = "9",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

AU - Morgan, Michael D.

AU - Pairo-Castineira, Erola

AU - Rawlik, Konrad

AU - Canela-Xandri, Oriol

AU - Rees, Jonathan

AU - Sims, David

AU - Tenesa, Albert

AU - Jackson, Ian J.

N1 - This work was carried out under UK Biobank study number 7206. It was funded by MRC core support to the Human Genetics Unit and to the Computational Genomics Analysis and Training programme through grant G1000902 and by BBSRC funding through Strategic Grant funding to the Roslin Institute BB/P013759/1 and BB/P013732/1. We would like to thank Sebastian Luna-Valero for extensive systems admin support and the other members of the CGAT programme for numerous robust and constructive discussions

PY - 2018/12/10

Y1 - 2018/12/10

N2 - Natural hair colour within European populations is a complex genetic trait. Previous work has established that MC1R variants are the principal genetic cause of red hair colour, but with variable penetrance. Here, we have extensively mapped the genes responsible for hair colour in the white, British ancestry, participants in UK Biobank. MC1R only explains 73% of the SNP heritability for red hair in UK Biobank, and in fact most individuals with two MC1R variants have blonde or light brown hair. We identify other genes contributing to red hair, the combined effect of which accounts for ~90% of the SNP heritability. Blonde hair is associated with over 200 genetic variants and we find a continuum from black through dark and light brown to blonde and account for 73% of the SNP heritability of blonde hair. Many of the associated genes are involved in hair growth or texture, emphasising the cellular connections between keratinocytes and melanocytes in the determination of hair colour.

AB - Natural hair colour within European populations is a complex genetic trait. Previous work has established that MC1R variants are the principal genetic cause of red hair colour, but with variable penetrance. Here, we have extensively mapped the genes responsible for hair colour in the white, British ancestry, participants in UK Biobank. MC1R only explains 73% of the SNP heritability for red hair in UK Biobank, and in fact most individuals with two MC1R variants have blonde or light brown hair. We identify other genes contributing to red hair, the combined effect of which accounts for ~90% of the SNP heritability. Blonde hair is associated with over 200 genetic variants and we find a continuum from black through dark and light brown to blonde and account for 73% of the SNP heritability of blonde hair. Many of the associated genes are involved in hair growth or texture, emphasising the cellular connections between keratinocytes and melanocytes in the determination of hair colour.

KW - Genome-wide association studies

KW - Genetics

KW - Genetic association study

U2 - 10.1038/s41467-018-07691-z

DO - 10.1038/s41467-018-07691-z

M3 - Article

SN - 2041-1723

VL - 9

JO - Nature Communications

JF - Nature Communications

M1 - 5271

ER -

Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability

Abstract

Bibliographical note

Data Availability Statement

Keywords

Access to Document

Fingerprint

Cite this