Evaluation of TP53, P27 and FAS polymorphism genes and endometriosis

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, P27 (V109G) and FAS –A670G 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, P27 (V109G) and FAS –A670G 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. The distribution of genotype and allele frequencies of p27 V109G polymorphism was significantly different between the endometriosis cases and healthy women (p = 0.016 and 0.002). Finally, FAS gene polymorphism study showed any significant difference between groups (p=0,97). Conclusions: P53*72 and P27 polymorphisms studies could be associated with endometriosis.