title: P gene as an inherited biomarker of human eye color.
abstract: 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.
authors.affiliation: Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. trebbeck@cceb.med.upenn.edu
authors.forename: Timothy R
authors.initials: TR
authors.lastname: Rebbeck
authors.forename: Peter A
authors.initials: PA
authors.lastname: Kanetsky
authors.forename: Amy H
authors.initials: AH
authors.lastname: Walker
authors.forename: Robin
authors.initials: R
authors.lastname: Holmes
authors.forename: Allan C
authors.initials: AC
authors.lastname: Halpern
authors.forename: Lynn M
authors.initials: LM
authors.lastname: Schuchter
authors.forename: David E
authors.initials: DE
authors.lastname: Elder
authors.forename: DuPont
authors.initials: D
authors.lastname: Guerry
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D017931:DNA Primers; D005127:Eye Color / Q000235:genetics*; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000209:etiology / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D012878:Skin Neoplasms / Q000209:etiology / Q000235:genetics*; D044465:White People
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; D005819:Genetic Markers; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human