P gene as an inherited biomarker of human eye color Academic Article uri icon


MeSH Major

  • Carrier Proteins
  • Chromosomes, Human, Pair 15
  • European Continental Ancestry Group
  • Eye Color
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Melanoma
  • Membrane Proteins
  • Membrane Transport Proteins
  • Skin Neoplasms


  • Human pigmentation, including eye color, has been associated with skin cancer risk. The P gene is the human homologue to the mouse pink-eye dilution locus and is responsible for oculocutaneous albinism type 2 and other phenotypes that confer eye hypopigmentation. The P gene is located on chromosome 15q11.2-q12, which is also the location of a putative eye pigmentation gene (EYCL3) inferred to exist by linkage analysis. Therefore, the P gene is a strong candidate for determination of human eye color. Using a sample of 629 normally pigmented individuals, we found that individuals were less likely to have blue or gray eyes if they had P gene variants Arg305Trp (P = 0.002), Arg419Gln (P = 0.001), or the combination of both variants (P = 0.003). These results suggest that P gene, in part, determines normal phenotypic variation in human eye color and may therefore represent an inherited biomarker of cutaneous cancer risk.

publication date

  • August 17, 2002



  • Academic Article



  • eng

PubMed ID

  • 12163334

Additional Document Info

start page

  • 782

end page

  • 4


  • 11


  • 8