title: A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model.
abstract: OBJECTIVE
  To analyze two phenotype characteristics--eye and hair color--using single-nucleotide polymorphisms (SNPs) and evaluate their prediction accuracy in Slovenian population.
  
  
  METHODS
  Twelve SNPs (OCA2 - rs1667394, rs7170989, rs1800407, rs7495174; HERC2 - rs1129038, rs12913832; MC1R - rs1805005, rs1805008; TYR - rs1393350; SLC45A2 - rs16891982, rs26722; SLC24A5 - rs1426654) were used for the development of a single multiplex assay. The single multiplex assay was based on SNaPshot chemistry and capillary electrophoresis. In order to evaluate the accuracy of the prediction of eye and hair color, we used the logistic regression model and the Bayesian network model, and compared the parameters of both.
  
  
  RESULTS
  The new single multiplex assay displayed high levels of genotyping sensitivity with complete profiles generated from as little as 62 pg of DNA. Based on a prior evaluation of all SNPs in a single multiplex, we focused on the five most statistically significant in our population in order to investigate the predictive value. The two prediction models performed reliably without prior ancestry information, and revealed very good accuracy for both eye and hair color. Both models determined the highest predictive value for rs12913832 (P<0.0001), while the other four SNPs (rs1393350, rs1800407, rs1805008, and rs7495174) showed additional association for color prediction.
  
  
  CONCLUSIONS
  We developed a sensitive and reliable single multiplex genotyping assay. More samples from different populations should be analyzed before this assay could be used as one of the supplemental tools in tracing unknown individuals in more complicated crime investigations.
authors.affiliation: National Forensic Laboratory, General Police Directorate, Police, Ministry of the Interior, Vodovodna 95, Ljubljana, Slovenia. vanja.kastelic@policija.si
authors.forename: Vanja
authors.initials: V
authors.lastname: Kastelic
authors.forename: Katja
authors.initials: K
authors.lastname: Drobnic
mesh_terms: D000328:Adult; D001499:Bayes Theorem; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005127:Eye Color / Q000235:genetics*; D005260:Female; D005828:Genetics, Population; D005838:Genotype; D006200:Hair Color / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D060885:Multiplex Polymerase Chain Reaction; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics; D017524:Slovenia
chemical_list: D017931:DNA Primers; D026901:Membrane Transport Proteins; D044102:Receptor, Melanocortin, Type 1; D004247:DNA