期刊
GENES
卷 6, 期 3, 页码 559-576出版社
MDPI
DOI: 10.3390/genes6030559
关键词
hair color; twin-family based heritability; GRM based heritability; Genome Wide Association Study
资金
- China Scholarship Council [201206180099]
- Genotype/phenotype database for behavior genetic and genetic epidemiological studies (ZonMW Middelgroot) [911-09-032]
- Genetics of Mental Illness: A lifespan approach to the genetics of childhood and adult neuropsychiatric disorders and co morbid conditions [ERC-230374]
- multiple grants for genotyping and expression data - Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-NL) [184.021.007]
- National Institute for Mental Health (NIMH) [1RC2 MH089951-01, 1RC2MH089995-01]
- Nederland's organization door Wetenschappelijk Onderzoek (NWO) [NWO/SPI 56-464-14192]
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.
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