TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

C M Camargo-Kosugi, P D'Amora, Paulo D’Amora, J P F O Kleine, Cristina Valletta de Carvalho, C V Carvalho, Hélio Sato, H Sato, Eduardo Schor, E Schor, I D C G Silva
Genetics and molecular research : GMR · 2014 · vol. 13(3) , pp. 6503–6511 · doi:10.4238/2014.august.26.1 · PMID:25177931 · W2148658309
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This study investigated TP53 gene polymorphisms at codons 11, 72, and 248 in Brazilian women and found an association between TP53 72 polymorphism and increased susceptibility to endometriosis.

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Abstract

We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53 11 Glu/Gln or Lys (GAG->CAG or AAG), TP53 72 Arg/Pro (CCG->CCC), and TP53 248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53 11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. The genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/Lys); the homozygous variant genotype was not identified (P = 0.02). TP53 72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). The genotypic distribution in the endometriosis group was 16.15% homozygous wild-type (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53 248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53 72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Codon Endometriosis Genetic Predisposition to Disease Polymorphism, Genetic Tumor Suppressor Protein p53 Adult Aged Alleles Brazil Codon DNA Mutational Analysis Endometriosis Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Linkage Disequilibrium Middle Aged Polymerase Chain Reaction

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