TP53 codon 72 polymorphism in pigmentary phenotypes
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Data
2012-03
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Resumo
The p53 protein exerts different cellular functions, and recent findings have demonstrated its influence on the cascade
of skin pigmentation during UV exposure. Among TP53 gene polymorphisms, the most studied is the G to C
transversion in exon 4 at codon 72, which results in three distinct genotypes, Arg/Arg, Pro/Pro and Arg/Pro, each one
encoding different p53 isoforms. Therefore, this study aimed to determine the relationship between TP53 codon 72
polymorphism and skin protection against sunburn. Genomic DNA was extracted from peripheral blood samples and
genotyping was performed by PCR and confirmed by restriction enzyme digestion. The genotype frequency was
50% for Arg/Arg and 14.6% for Pro/Pro genotype. The frequency of heterozygous subjects was 35.4%. In our
population, p53 genotypes were in Hardy–Weinberg (HW) equilibrium (χ 2HM <3.84), showing a predominance of
arginine allele (total Arg allele frequency of 68%). No significant association between p53 genotype and skin colour,
hair or eye colour and susceptibility to sun exposure was found. However, further analysis demonstrated a significant
association between the genotype Pro/Pro and blue/green eyes among participants who presented redness (P=0.016).
Our findings indicate susceptibility to sun exposure when this phenotype (eye colour) occurs simultaneously with
Pro/Pro genotype.
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Palavras-chave
Polymorphism, Sunlight susceptibility, p53, Pigmentation traits
Citação
COSTA, Kárita Antunes Costa; GUILLO, Lidia Andreu. TP53 codon 72 polymorphism in pigmentary phenotypes. Journal of Biosciences, New York, v. 37, n. 1, p. 33-39, Mar. 2012.