Journal of Biosciences

, Volume 37, Issue 1, pp 33–39 | Cite as

TP53 codon 72 polymorphism in pigmentary phenotypes

Article

Abstract

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 (χ2 HM < 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.

Keywords

Polymorphism p53 pigmentation traits sunlight susceptibility 

Notes

Acknowledgements

We thank the Instituto de Hematologia Goiano (INGOH) staff and participants for their attention and collaboration. This work was supported by the Brazilian agencies CNPq and FUNAPE. KAC was supported by CAPES.

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Copyright information

© Indian Academy of Sciences 2012

Authors and Affiliations

  1. 1.Department of Biochemistry and Molecular Biology, Biological Sciences InstituteUniversidade Federal de GoiásGoiânia-GOBrazil

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