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P Gene as an Inherited Biomarker of Human Eye Color¹

Departments of Biostatistics and Epidemiology [T. R. R., P. A. K., A. H. W., R. H.] and Pathology and Laboratory Medicine [D. E. E.], Division of Hematology/Oncology [L. M. S., D. G.], and The Melanoma Program of Cancer Center [T. R. R., P. A. K., L. M. S., D. E. E., D. G.], University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, and Memorial Sloan-Kettering Cancer Center, New York, New York 10021 [A. C. H.]

Human pigmentation, including eye color, has been associatedwith skin cancer risk. The P gene is the human homologueto 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.

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