Eye colour: portals into pigmentation genes and ancestry

Trends Genet. 2004 Aug;20(8):327-32. doi: 10.1016/j.tig.2004.06.010.


Several recent papers have tried to address the genetic determination of eye colour via microsatellite linkage, testing of pigmentation candidate gene polymorphisms and the genome wide analysis of SNP markers that are informative for ancestry. These studies show that the OCA2 gene on chromosome 15 is the major determinant of brown and/or blue eye colour but also indicate that other loci will be involved in the broad range of hues seen in this trait in Europeans.

MeSH terms

  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 15 / genetics*
  • Eye Color / genetics*
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Melanins / genetics
  • Melanins / metabolism
  • Membrane Proteins / genetics*
  • Membrane Transport Proteins*
  • Microsatellite Repeats / genetics
  • Pigmentation / genetics*
  • Polymorphism, Single Nucleotide


  • Carrier Proteins
  • Genetic Markers
  • Melanins
  • Membrane Proteins
  • Membrane Transport Proteins
  • OCA2 protein, human