title: TP53 codon 72 polymorphism in pigmentary phenotypes.
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 (X2 HM less than 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Biological Sciences Institute, Universidade Federal de Goias, CP 131, 74001-970, Goiania-GO, Brazil. karitacostabio@gmail.com
authors.forename: Karita Antunes
authors.initials: KA
authors.lastname: Costa
authors.forename: Lidia Andreu
authors.initials: LA
authors.lastname: Guillo
mesh_terms: D001938:Brazil; D003062:Codon / Q000235:genetics; D005127:Eye Color / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012880:Skin Pigmentation / Q000235:genetics*; D013471:Sunburn / Q000235:genetics*; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D003062:Codon; D020033:Protein Isoforms; D016159:Tumor Suppressor Protein p53