TP53 polymorphisms and association with endometriosis in Brazilian population

Introduction Endometriosis is a benign gynaecologycal disease, defined as the presence of functional endometrial implants out of uterus, mainly in pelvis. Cell cycle and apoptosis disturbs could be associated with this disease as well as alterations in the genes that control. Aim To investigate the possible association between the presence of the polymorphisms in the genes TP53: codons 11; 72; 248 with endometriosis. Methods Cross sectional case–control study was performed. Genomic DNA was extracted from cells collected from buccal swabs. The TP53: codons 11; 72; 248 polymorphisms were investigated using the polymerase chain reaction restriction fragment length polymorphism (PCR‐RFLP) method in a hospital‐based Brazilian population. Results The P53 gene, codon 11 (P53*11) polymorphism study showed that mostly of women did not present the allelic variance (p=0.255). The P53 gene, codon 72 (P53*72) polymorphism study presented significant differences between endometriosis and control groups (P=0.01; OR=2.19; 95% IC=1.196–4.039). The P53 gene, codon 248 polymorphism study showed that only one woman from endometriosis group presented heterozygosis to variate allele. Conclusions P53*72 polymorphisms studies could be associated with endometriosis.