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Genetics of Iris Color

FIXME

  • Eye color is determined by the presence and degree of melanin pigment in the iris
  • The degree of pigmentation is a polygenic trait

Genes responsible for iris pigmentation

OCA2

  • 75% of variance is from the OCA2 gene(chromosome 15)
    • single base change rs12913832 T/C within intron 86 of the upstream HERC2 locus explains almost all of the OCA gene iris pigmentation variation

MITF

PAX6