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

Caliebe, A., Harder, M., Schuett, R., Krawczak, Michael, Nebel, A. and von Wurmb-Schwark, N. (2016) The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population European Journal of Human Genetics, 24 (5). pp. 739-747. DOI 10.1038/ejhg.2015.167.

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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, P < 1.2 x 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.

Document Type: Article
Additional Information: Times Cited: 0 Caliebe, Amke Harder, Melanie Schuett, Rebecca Krawczak, Michael Nebel, Almut von Wurmb-Schwark, Nicole
Research affiliation: Kiel University
OceanRep > The Future Ocean - Cluster of Excellence
Refereed: Yes
DOI etc.: 10.1038/ejhg.2015.167
ISSN: 1018-4813
Projects: Future Ocean
Date Deposited: 19 Mar 2017 08:27
Last Modified: 19 Mar 2017 08:27

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