Two newly identified genetic determinants of pigmentation in Europeans

Nat Genet. 2008 Jul;40(7):835-7. doi: 10.1038/ng.160. Epub 2008 May 18.


We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics similar to those affected by well-known mutations in MC1R.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Agouti Signaling Protein / genetics*
  • Calcium Channels / genetics*
  • Eye Color / genetics
  • Gene Frequency
  • Genetic Linkage
  • Genetics, Population
  • Hair / physiology
  • Haplotypes
  • Humans
  • Iceland
  • Melanosis / genetics
  • Netherlands
  • Odds Ratio
  • Pigmentation / genetics*
  • Polymorphism, Single Nucleotide*
  • Solar System


  • ASIP protein, human
  • Agouti Signaling Protein
  • Calcium Channels
  • TPCN2 protein, human