P gene as an inherited biomarker of human eye color.
Cancer Epidemiol Biomarkers Prev
; 11(8): 782-4, 2002 Aug.
Article
em En
| MEDLINE
| ID: mdl-12163334
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.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
/
Neoplasias Cutâneas
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Cromossomos Humanos Par 15
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Cor de Olho
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Proteínas de Transporte
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Marcadores Genéticos
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Predisposição Genética para Doença
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População Branca
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Melanoma
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Proteínas de Membrana
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article