Genetic determinants of hair, eye and skin pigmentation in Europeans

Sulem, Patrick; Guðbjartsson, Daníel F.; Stacey, Simon; Helgason, Agnar; Rafnar, Thorunn; Magnússon, Kristinn P.; Manolescu, Andrei; Kárason, Ari; Pálsson, Arnar; Þorleifsson, Guðmar; Jakobsdottir, Margret; Steinberg, Stacy; Pálsson, Snæbjörn; Jónasson, Friðbert; Sigurgeirsson, Bárður; Thorisdottir, Kristin; Ragnarsson, Rafn; Benediktsdóttir, Kristrún R.; Aben, Katja K.H.; Kiemeney, Lambertus A.; Ólafsson, Jón; Gulcher, Jeffrey R.; Kong, Augustine; Þorsteinsdóttir, Unnur; Stefánsson, Kári

doi:10.1038/ng.2007.13

Cited by 657 publications

(711 citation statements)

References 49 publications

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“…Similar results were observed for already published male and female eye colour frequency data in Icelandic and Dutch populations [8] but not in Australian [9] and Polish populations [10]. Martinez-Cadenas and co-workers [1] suggested that the prediction success of the IrisPlex model and other models used to predict eye colour phenotypes from DNA genotypes may be improved by including gender as a factor.…”

Section: Introductionsupporting

confidence: 86%

The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

Pietroni

Andersen

Johansen

et al. 2014

Forensic Science International: Genetics

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This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. In this study, we investigate the role of gender as a factor that contributes to eye colour variation and suggest that the gender effect on eye colour is population specific.A total of 230 Italian individuals were typed for the six IrisPlex SNPs (rs12913832, rs1800407, rs12896399, rs1393350, rs16891982 and rs12203592). A quantitative eye colour score (Pixel Index of the Eye: PIE-score) was calculated based on digital eye images using the custom made DIAT software. The results were compared with those of Danish and Swedish population samples.As expected, we found HERC2 rs12913832 as the main predictor of human eye colour independently of ancestry. Furthermore, we found gender to be significantly associated with quantitative eye colour measurements in the Italian population sample. We found that the association was statistically significant only among Italian individuals typed as heterozygote GA for HERC2 rs12913832. Interestingly, we did not observe the same association in the Danish and Swedish population. This indicated that the gender effect on eye colour is population specific. We estimated the effect of gender on quantitative eye colour in the Italian population sample to be 4.9%. Among gender and the IrisPlex SNPs, gender ranked as the second most important predictor of human eye colour variation in Italians after HERC2 rs12913832. We, furthermore, tested the five lower ranked IrisPlex predictors, and evaluated all possible 3 6 (729) genotype combinations of the IrisPlex assay and their corresponding predictive values using the IrisPlex prediction model [4]. The results suggested that maximum three (rs12913832, rs1800407, rs16891982) of the six IrisPlex SNPs are useful in practical forensic genetic casework.

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Section: Introductionsupporting

confidence: 86%

The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

Pietroni

Andersen

Johansen

et al. 2014

Forensic Science International: Genetics

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“…The 24 (SNPs) located in 11 genes, which have been shown to be significantly associated with human pigmentation 10,13,14,16,18,19,[21][22][23][24][25][27][28][29][30][31][32] were genotyped in two multiplex minisequencing assays. The list of the studied polymorphisms is given in Supplementary Table 1.…”

Section: Single Nucleotide Polymorphism Genotypingmentioning

confidence: 99%

“…[10][11][12][13][14][15][16] However, it is important to note that-unlike in the case of testing for many complex diseases 17 genome-wide association study has been particularly effective in association testing for human pigmentation and has confirmed already known, and revealed multiple new polymorphisms and loci involved in determination of human pigmentation. [18][19][20][21] This has been particularly striking in the case of variation in eye colour, which is assessed to be 50% explained by known polymorphisms. 22 This has led to the first predictive tests of extreme eye colours (blue or brown) in forensic sciences with relatively high accuracies.…”

Section: Introductionmentioning

confidence: 99%

Gene–gene interactions contribute to eye colour variation in humans

et al. 2011

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Prediction of phenotypes from genetic data is considered to be the first practical application of data gained from association studies, with potential importance for medicine and the forensic sciences. Multiple genes and polymorphisms have been found to be associated with variation in human pigmentation. Their analysis enables prediction of blue and brown eye colour with a reasonably high accuracy. More accurate prediction, especially in the case of intermediate eye colours, may require better understanding of gene-gene interactions affecting this polygenic trait. Using multifactor dimensionality reduction and logistic regression methods, a study of gene-gene interactions was conducted based on variation in 11 known pigmentation genes examined in a cohort of 718 individuals of European descent. The study revealed significant interactions of a redundant character between the HERC2 and OCA2 genes affecting determination of hazel eye colour and between HERC2 and SLC24A4 affecting determination of blue eye colour. Our research indicates interactive effects of a synergistic character between HERC2 and OCA2, and also provides evidence for a novel strong synergistic interaction between HERC2 and TYRP1, both affecting determination of green eye colour.

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“…Although the number of studies examining differences within European populations has thus far been more limited, similar studies have identified the lactase gene as well as several genes that determine eye color. 6,7 Many studies have indicated that malaria has been a major factor in the natural selection of a variety of genes in different human population groups but a clear demonstration of the selection of complement receptor (CR1) has not been previously reported.…”

Section: Introductionmentioning

confidence: 99%

Evidence for malaria selection of a CR1 haplotype in Sardinia

et al. 2011

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Complement receptor 1 (CR1) levels have been associated with malarial susceptibility and/or severity of the disease in different population groups, and CR1 is a receptor for Plasmodium falciparum. In this study, multiple CR1 single-nucleotide polymorphisms (SNPs) showed strong evidence of population differentiation between Sardinian and other European ethnic groups. Cross population algorithms comparing haplotype structure and differences in haplotype and allele frequency distribution provided additional support for natural selection of CR1 in Sardinia. The predominant Sardinian CR1 haplotype included SNPs that are associated with decreased CR1 levels in Europeans and other population groups. Previous studies have shown that the SNPs within the dominant Sardinian haplotype have a significantly higher frequency in a malaria endemic compared with non-endemic regions in India. Together with the historical evidence of the prevalence of malaria in Sardinia, these data support the role of malaria leading to positive selection of this CR1 haplotype in Sardinia.

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Genetic determinants of hair, eye and skin pigmentation in Europeans

Cited by 657 publications

References 49 publications

The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model

Gene–gene interactions contribute to eye colour variation in humans

Evidence for malaria selection of a CR1 haplotype in Sardinia

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