Predicting phenotype from genotype: normal pigmentation

J Forensic Sci. 2010 Mar 1;55(2):315-22. doi: 10.1111/j.1556-4029.2009.01317.x. Epub 2010 Feb 11.


Genetic information in forensic studies is largely limited to CODIS data and the ability to match samples and assign them to an individual. However, there are circumstances, in which a given DNA sample does not match anyone in the CODIS database, and no other information about the donor is available. In this study, we determined 75 SNPs in 24 genes (previously implicated in human or animal pigmentation studies) for the analysis of single- and multi-locus associations with hair, skin, and eye color in 789 individuals of various ethnic backgrounds. Using multiple linear regression modeling, five SNPs in five genes were found to account for large proportions of pigmentation variation in hair, skin, and eyes in our across-population analyses. Thus, these models may be of predictive value to determine an individual's pigmentation type from a forensic sample, independent of ethnic origin.

MeSH terms

  • Adolescent
  • Adult
  • Agouti Signaling Protein / genetics
  • Antigens, Neoplasm / genetics
  • Antiporters / genetics
  • Ethnic Groups
  • Eye Color / genetics*
  • Forensic Genetics
  • Genotype
  • Guanine Nucleotide Exchange Factors / genetics
  • Hair / chemistry
  • Hair Color / genetics*
  • Humans
  • Linear Models
  • Melanins / analysis
  • Membrane Transport Proteins / genetics
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Skin Pigmentation / genetics*
  • Ubiquitin-Protein Ligases


  • ASIP protein, human
  • Agouti Signaling Protein
  • Antigens, Neoplasm
  • Antiporters
  • Guanine Nucleotide Exchange Factors
  • Melanins
  • Membrane Transport Proteins
  • SLC24A5 protein, human
  • SLC45A2 protein, human
  • HERC2 protein, human
  • Ubiquitin-Protein Ligases