Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample

Research output: Contribution to JournalArticleAcademicpeer-review

Abstract

Hair color is one of the most visible and heritable traits in humans. Here, we estimated heritability by structural equation modeling (N = 20,142), and performed a genome wide association (GWA) analysis (N = 7091) and a GCTA study (N = 3340) on hair color within a large cohort of twins, their parents and siblings from the Netherlands Twin Register (NTR). Self-reported hair color was analyzed as five binary phenotypes, namely “blond versus non-blond”, “red versus non-red”, “brown versus non-brown”, “black versus non-black”, and “light versus dark”. The broad-sense heritability of hair color was estimated between 73% and 99% and the genetic component included non-additive genetic variance. Assortative mating for hair color was significant, except for red and black hair color. From GCTA analyses, at most 24.6% of the additive genetic variance in hair color was explained by 1000G well-imputed SNPs. Genome-wide association analysis for each hair color showed that SNPs in the MC1R region were significantly associated with red, brown and black hair, and also with light versus dark hair color. Five other known genes (HERC2, TPCN2, SLC24A4, IRF4, and KITLG) gave genome-wide significant hits for blond, brown and light versus dark hair color. We did not find and replicate any new loci for hair color.
LanguageEnglish
Pages559-576
Number of pages18
JournalGenes
Volume6
Issue number3
DOIs
Publication statusPublished - 2015

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Hair Color
Genome-Wide Association Study
Light
Single Nucleotide Polymorphism
Netherlands
Hair

Cite this

@article{365b7c943671456eaa30f0675347ad82,
title = "Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample",
abstract = "Hair color is one of the most visible and heritable traits in humans. Here, we estimated heritability by structural equation modeling (N = 20,142), and performed a genome wide association (GWA) analysis (N = 7091) and a GCTA study (N = 3340) on hair color within a large cohort of twins, their parents and siblings from the Netherlands Twin Register (NTR). Self-reported hair color was analyzed as five binary phenotypes, namely “blond versus non-blond”, “red versus non-red”, “brown versus non-brown”, “black versus non-black”, and “light versus dark”. The broad-sense heritability of hair color was estimated between 73{\%} and 99{\%} and the genetic component included non-additive genetic variance. Assortative mating for hair color was significant, except for red and black hair color. From GCTA analyses, at most 24.6{\%} of the additive genetic variance in hair color was explained by 1000G well-imputed SNPs. Genome-wide association analysis for each hair color showed that SNPs in the MC1R region were significantly associated with red, brown and black hair, and also with light versus dark hair color. Five other known genes (HERC2, TPCN2, SLC24A4, IRF4, and KITLG) gave genome-wide significant hits for blond, brown and light versus dark hair color. We did not find and replicate any new loci for hair color.",
author = "B. Lin and H. Mbarek and G. Willemsen and C.V. Dolan and I.O. Fedko and A. Abdellaoui and {de Geus}, E.J.C. and D.I. Boomsma and J.J. Hottenga",
year = "2015",
doi = "10.3390/genes6030559",
language = "English",
volume = "6",
pages = "559--576",
journal = "Genes",
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Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample. / Lin, B.; Mbarek, H.; Willemsen, G.; Dolan, C.V.; Fedko, I.O.; Abdellaoui, A.; de Geus, E.J.C.; Boomsma, D.I.; Hottenga, J.J.

In: Genes, Vol. 6, No. 3, 2015, p. 559-576.

Research output: Contribution to JournalArticleAcademicpeer-review

TY - JOUR

T1 - Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample

AU - Lin, B.

AU - Mbarek, H.

AU - Willemsen, G.

AU - Dolan, C.V.

AU - Fedko, I.O.

AU - Abdellaoui, A.

AU - de Geus, E.J.C.

AU - Boomsma, D.I.

AU - Hottenga, J.J.

PY - 2015

Y1 - 2015

N2 - Hair color is one of the most visible and heritable traits in humans. Here, we estimated heritability by structural equation modeling (N = 20,142), and performed a genome wide association (GWA) analysis (N = 7091) and a GCTA study (N = 3340) on hair color within a large cohort of twins, their parents and siblings from the Netherlands Twin Register (NTR). Self-reported hair color was analyzed as five binary phenotypes, namely “blond versus non-blond”, “red versus non-red”, “brown versus non-brown”, “black versus non-black”, and “light versus dark”. The broad-sense heritability of hair color was estimated between 73% and 99% and the genetic component included non-additive genetic variance. Assortative mating for hair color was significant, except for red and black hair color. From GCTA analyses, at most 24.6% of the additive genetic variance in hair color was explained by 1000G well-imputed SNPs. Genome-wide association analysis for each hair color showed that SNPs in the MC1R region were significantly associated with red, brown and black hair, and also with light versus dark hair color. Five other known genes (HERC2, TPCN2, SLC24A4, IRF4, and KITLG) gave genome-wide significant hits for blond, brown and light versus dark hair color. We did not find and replicate any new loci for hair color.

AB - Hair color is one of the most visible and heritable traits in humans. Here, we estimated heritability by structural equation modeling (N = 20,142), and performed a genome wide association (GWA) analysis (N = 7091) and a GCTA study (N = 3340) on hair color within a large cohort of twins, their parents and siblings from the Netherlands Twin Register (NTR). Self-reported hair color was analyzed as five binary phenotypes, namely “blond versus non-blond”, “red versus non-red”, “brown versus non-brown”, “black versus non-black”, and “light versus dark”. The broad-sense heritability of hair color was estimated between 73% and 99% and the genetic component included non-additive genetic variance. Assortative mating for hair color was significant, except for red and black hair color. From GCTA analyses, at most 24.6% of the additive genetic variance in hair color was explained by 1000G well-imputed SNPs. Genome-wide association analysis for each hair color showed that SNPs in the MC1R region were significantly associated with red, brown and black hair, and also with light versus dark hair color. Five other known genes (HERC2, TPCN2, SLC24A4, IRF4, and KITLG) gave genome-wide significant hits for blond, brown and light versus dark hair color. We did not find and replicate any new loci for hair color.

U2 - 10.3390/genes6030559

DO - 10.3390/genes6030559

M3 - Article

VL - 6

SP - 559

EP - 576

JO - Genes

T2 - Genes

JF - Genes

SN - 2073-4425

IS - 3

ER -