Analysis of polymorphic variants of the survivin promoter and p53 transcription factor in patients with genital endometriosis, type 1 diabetes mellitus and their combination

Abstract

AIM: The aim of this study was to analyze the association between the SNP surviving, the p53 gene polymorphisms and the risk of developing genital endometriosis and type 1 diabetes mellitus. MATERIALS AND METHODS: The frequency of allelic variants of the BIRC5 and TP53 genes was studied by PCR-RFLP analysis in 243 women, including 84 patients with genital endometriosis (stages IIV), 85 patients with type 1 diabetes mellitus, 47 women with diabetes mellitus type 1 and endometriosis and 27 women of the control group represented by the population sample. RESULTS: It was found that the frequency of the allele C polymorphic variant of rs9904341 in the BIRC5 gene was significantly higher in the group of patients with diseases compared to the population sample (p 0.05). Significant differences for the C / C genotype in patients with genital endometriosis relative to the control group (p = 0.01) According to the odds ratio, the risk of developing genital endometriosis was 56 times higher for this genotype (ОR 56.31, CI 2.521258.7). Significant differences for the ins/ins genotype of TP53(p16) gene in patients with genital endometriosis relative to the control group (p = 0.005). According to the odds ratio, the risk of developing genital endometriosis was 94 times higher for this genotype (ОR 94.29, CI 3.882288.81). In addition, the frequency of the allele ins polymorphic variant of p16 in the TP53 gene was significantly higher in the group of patients with diseases compared to the control group (p 0.05). The same results for the P allele of the rs1042522 polymorphism in the TP53 gene (p 0.05). According to the odds ratio, the risk of developing genital endometriosis with diabetes mellitus type 1 was 3 times higher for G/A genotype of rs9930232 (p6) than for other genotypes (ОR 3.1, CI 2.521258.7) CONCLUSIONS: The investigated factors can be considered as risk markers for the development of genital endometriosis and diabetes mellitus type one.