Verification of eye and skin color predictors in various populations

Pneuman, Amanda; Budimlija, Zoran; Caragine, Theresa; Prinz, Mechthild; Wurmbach, Elisa

doi:10.1016/j.legalmed.2011.12.005

Cited by 53 publications

(48 citation statements)

References 25 publications

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“…A combination of seven SNPs (HERC2 rs12913832, OCA2 rs1545397, SLC45A2 rs16891982, SLC24A5 rs1426654, MC1R rs885479, ASIP rs6119471, and IRF4 rs12203592) has been shown to be a classifier for predicting "not dark" and "not white" in a study of 554 subjects from diverse populations [92]. This finding has been further confirmed in 251 newly collected subjects [171]. The proposed model gives partially overlapping prediction outcomes, which are not commonly accepted in the field of (medical) diagnosis.…”

Section: Skin Colormentioning

confidence: 68%

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Colorful DNA polymorphisms in humans

Liu

Wen

Kayser

2013

Seminars in Cell & Developmental Biology

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a b s t r a c tIn this review article we summarize current knowledge on how variation on the DNA level influences human pigmentation including color variation of iris, hair, and skin. We review recent progress in the field of human pigmentation genetics by focusing on the genes and DNA polymorphisms discovered to be involved in determining human pigmentation traits, their association with diseases particularly skin cancers, and their power to predict human eye, hair, and skin colors with potential utilization in forensic investigations.

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Section: Skin Colormentioning

confidence: 68%

“…DNA-based eye color prediction models have been proposed [91] and further developed mostly for forensic applications [92,93,150,[167][168][169][170][171]. In one study, 37 eye color associated SNPs from 8 genes have been tested in 6168 Dutch Europeans for their independent predictive effects on three eye color categories [91].…”

Section: Eye Colormentioning

confidence: 99%

Colorful DNA polymorphisms in humans

Liu

Wen

Kayser

2013

Seminars in Cell & Developmental Biology

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“…Such markers were successfully applied before. In the respective studies 28,48 SNP rs12913832 (HERC2) again had the largest impact on eye colour prediction. One reason for the poor performance of the blond hair markers proposed by Branicki et al 29 may be that the original study used a rather small sample of 385 individuals to estimate a large number of parameters (13 influential variables and four response hair categories) in a multinomial model, which rendered the analysis prone to overfitting.…”

Section: Discussionmentioning

confidence: 99%

The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population

et al. 2015

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Human pigmentation traits are of great interest to many research areas, from ancient DNA analysis to forensic science. We developed a gene-based predictive model for pigmentation phenotypes in a realistic target population for forensic case work from Northern Germany and compared our model with those brought forth by previous studies of genetically more heterogeneous populations. In doing so, we aimed at answering the following research questions: (1) do existing models allow good prediction of high-quality phenotypes in a genetically similar albeit more homogeneous population? (2) Would a model specifically set up for the more homogeneous population perform notably better than existing models? (3) Can the number of markers included in existing models be reduced without compromising their predictive capability in the more homogenous population? We investigated the association between eye, hair and skin colour and 12 candidate single-nucleotide polymorphisms (SNPs) from six genes. Our study comprised two samples of 300 and 100 individuals from Northern Germany. SNP rs12913832 in HERC2 was found to be strongly associated with blue eye colour (odds ratio = 40.0, Po1.2 × 10 − 4 ) and to yield moderate predictive power (AUC: 77%; sensitivity: 90%, specificity: 63%, both at a 0.5 threshold for blue eye colour probability). SNP associations with hair and skin colour were weaker and genotypes less predictive. A comparison with two recently published sets of markers to predict eye and hair colour revealed that the consideration of additional SNPs with weak-to-moderate effect increased the predictive power for eye colour, but not for hair colour.

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“…[4][5][6][7] The various ethnic groups on Madagascar are generally classified into two main subgroups: the Highlanders (HL), considered being more Asian in culture and phenotype, and the people from the coasts (CT), thought to be more African. 8 The determination of the phenotype, for example, eye colour, hair colour or skin colour, or the population origin from DNA has been an important research field in recent years, in which considerable progress has been accomplished (see for example [9][10][11][12][13][14][15] ). These techniques have already been applied successfully in the characterisation of ancient skeletal human remains.…”

Section: Introductionmentioning

confidence: 99%

Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example

Poetsch¹,

Wiegand²,

Harder³

et al. 2013

Eur J Hum Genet

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Y-chromosomal and mitochondrial DNA (mtDNA) polymorphisms have been used for population studies for a long time. However, there is another possibility to define the origin of a population: autosomal single-nucleotide polymorphisms (SNPs) whose allele frequencies differ considerably in different populations. In an attempt to compare the usefulness of these approaches we studied a population from Madagascar using all the three mentioned approaches. Former investigations of Malagasy maternal (mtDNA) and paternal (Y chromosome) lineages have led to the assumption that the Malagasy are an admixed population with an African and Asian-Indonesian heritage. Our additional study demonstrated that more than two-third of the Malagasy investigated showed clearly a West African genotype regarding only the autosomal SNPs despite the fact that 64% had an Asian mtDNA and more than 70% demonstrated an Asian-Indonesian heritage in either mtDNA or Y-chromosomal haplogroup or both. Nonetheless, the admixture of the Malagasy could be confirmed. A clear African or Asian-Indonesian heritage according to all the three DNA approaches investigated was only found in 14% and 1% of male samples, respectively. Not even the European or Northern African influences, detected in 9% of males (Y-chromosomal analysis) and 11% of samples (autosomal SNPs) were consistent. No Malagasy in our samples showed a European or Northern African origin in both categories. So, the analysis of autosomal SNPs could confirm the admixed character of the Malagasy population, even if it pointed to a greater African influence as detectable by Y-chromosomal or mtDNA analysis.

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Verification of eye and skin color predictors in various populations

Cited by 53 publications

References 25 publications

Colorful DNA polymorphisms in humans

Colorful DNA polymorphisms in humans

The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population

Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example

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