Genetic determinants of hair, eye and skin pigmentation in Europeans

  title={Genetic determinants of hair, eye and skin pigmentation in Europeans},
  author={Patrick Sulem and Daniel Fannar Gudbjartsson and Simon N. Stacey and Agnar Helgason and Thorunn Rafnar and Kristinn P{\'e}tur Magn{\'u}sson and Andrei Manolescu and Ari K{\'a}rason and Arnar P{\'a}lsson and Gudmar Thorleifsson and Margret Jakobsdottir and Stacy Steinberg and Sn{\ae}bj{\"o}rn P{\'a}lsson and Fridbert J{\'o}nasson and B{\'a}rdur Sigurgeirsson and Kristin Thorisdottir and Rafn Ragnarsson and Kristrun R. Benediktsdottir and Katja K. H. Aben and Lambertus A.L.M. Kiemeney and J{\'o}n Hjaltal{\'i}n {\'O}lafsson and Jeffrey R. Gulcher and Augie Kong and Unnur Thorsteinsd{\'o}ttir and K{\'a}ri Stef{\'a}nsson},
  journal={Nature Genetics},
Hair, skin and eye colors are highly heritable and visible traits in humans. [] Key Method We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions—four not previously implicated in the normal variation of human pigmentation—and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from…

Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations

It is found that the pigmentation phenotypes are highly stratified along axes of European genetic differentiation, and men are more lightly pigmented in the unexposed skin of the inner arm than women, a fact that is underappreciated and may vary across the world.

The Genetic Overlap Between Hair and Eye Color

Strong genetic correlations were found between various combinations of hair and eye colors and the effects of population stratification and the true genetic effects of variants on these particular phenotypes were difficult to separate.

Molecular genetics of human pigmentation diversity.

  • R. Sturm
  • Biology
    Human molecular genetics
  • 2009
From a culmination of genetic and functional studies, it is apparent that a number of genes impacting melanosome biogenesis or the melanin biosynthetic pathway are candidates to explain the diversity seen in human pigmentation.

Genetic determinants of hair and eye colours in the Scottish and Danish populations

Novel associations with SNPs in known pigmentation genes and colorimetrically assessed hair colour in a Scottish and a Danish population are found.

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

A multi-stage genome-wide association study of natural hair color in more than 10,000 men and women of European ancestry from the United States and Australia suggests that the IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation.

The Genetics of Human Skin and Hair Pigmentation.

The responsible polymorphisms within these pigmentation genes appear at different population frequencies, can be used as ancestry-informative markers, and provide insight into the evolutionary selective forces that have acted to create this human diversity.

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

A genome-wide association study using UK BioBank data is carried out, suggesting that in combination with pigmentation genes, variants with roles in hair texture and growth can affect hair colouration or the authors' perception of it.

A molecular basis for classic blond hair color in Europeans

A regulatory region of the KITLG gene (encoding KIT ligand) that is significantly associated with common blond hair color in northern Europe is dissect, confirming that altered regulation of an essential growth factor contributes to the classic blond hair phenotype found in northern Europeans.

A large Canadian cohort provides insights into the genetic architecture of human hair colour

A GWAS meta-analyses of hair colour in a Canadian cohort of 12,741 individuals of European ancestry identifies candidate causal variants in pigmentation loci associated with blonde, red and brown hair colour and provides insights on the mechanisms regulating pigmentation biology in humans.

Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.

A new region downstream of the EDNRB gene on 13q22 associated with hair color and the strongest association was the single-nucleotide polymorphism (SNP) rs975739, and a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color was identified.



Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms

The data suggest that light skin colour is the derived state and is of independent origin in Europeans and Asians, whereas dark skin color seems of unique origin, reflecting the ancestral state in humans.

Sequences associated with human iris pigmentation.

The results suggest that cryptic population structure might serve as a leverage tool for complex trait gene mapping if genomes are screened with the appropriate ancestry informative markers.

The genetics of sun sensitivity in humans.

  • J. Rees
  • Biology
    American journal of human genetics
  • 2004
A single locus, identified within a Mendelian framework, can contribute significantly to human pigmentary variation through its role in regulating melanin pigmentation.

Genetic evidence for the convergent evolution of light skin in Europeans and East Asians.

A case for the recent convergent evolution of a lighter pigmentation phenotype in Europeans and East Asians is supported by the testing for the presence of positive directional selection in 6 pigmentation genes using an empirical F(ST) approach and a role for MATP in determining normal skin pigmentation variation using admixture mapping methods.

Human pigmentation genetics: the difference is only skin deep

  • R. SturmN. BoxM. Ramsay
  • Biology
    BioEssays : news and reviews in molecular, cellular and developmental biology
  • 1998
Three classes of genes have been examined for their contribution to normal human color variation through the production of hypopigmented phenotypes or by genetic association with skin type and hair color.

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

The minor population impact of the nonsynonymous coding-region polymorphisms Arg305Trp and Arg419Gln associated with nonblue eyes and the tight linkage of the major TGT haplotype within the intron 1 of OCA2 with blue eye color and lighter hair and skin tones suggest that differences within the 5' proximal regulatory control region of the OCA1 gene alter expression or messenger RNA-transcript levels and may be responsible for these associations.

Identifying genes underlying skin pigmentation differences among human populations

The DCT gene is identified as a candidate for recent positive selection in the Chinese and it is likely that different genes are responsible for the lighter skin pigmentation found in different non-African populations.

A scan for signatures of positive selection in candidate loci for skin pigmentation in humans.

Results indicate that both light and dark skin may possess adaptive value and photoprotection against sun-induced skin damage/cancer might be proposed as a mechanism that has driven the evolution of human skin pigmentation.

The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model.

A tentative three-population model (West Africa, East Asia and North Europe) of the evolutionary-genetic architecture of human pigmentation is provided and a complex evolutionary history is suggested, with selection acting on different gene targets at different times and places in the human past.