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

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 thos...

Full description

Saved in:
Bibliographic Details
Published in:European journal of human genetics : EJHG 2016-05, Vol.24 (5), p.739-747
Main Authors: Caliebe, Amke, Harder, Melanie, Schuett, Rebecca, Krawczak, Michael, Nebel, Almut, von Wurmb-Schwark, Nicole
Format: Article
Language:English
Subjects:
Adult
Animal models
Deoxyribonucleic acid
DNA
Eye Color - genetics
Female
Forensic science
Forensic sciences
Generalized linear models
Genes
Genetics
Genomes
Genomics
Germany
Guanine Nucleotide Exchange Factors - genetics
Hair
Hair Color - genetics
Humans
Investigations
Legal medicine
Male
Middle Aged
Phenotype
Phenotypes
Pigmentation
Polymorphism, Single Nucleotide
Population genetics
Single-nucleotide polymorphism
Skin
Skin cancer
Skin Pigmentation - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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
ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2015.167