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

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.

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 I–IV), 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.

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 2.52–1258.7). 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 3.88–2288.81). 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 2.52–1258.7)

The investigated factors can be considered as risk markers for the development of genital endometriosis and diabetes mellitus type one. Full Text About the authors Nelly Y. Andreeva D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductive Medicine Email: [email protected] ORCID iD: 0000-0002-1928-1266 SPIN-code: 3355-2646 Russian Federation, Saint Petersburg Tatiana E. Ivaschenko D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductive Medicine Email: [email protected] ORCID iD: 0000-0002-8549-6505 Scopus Author ID: 7004724202 PhD, Dr. Sci. (Biol.), Professor Russian Federation, Saint PetersburgMaria I. Yarmolinskaya D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductive Medicine; North-Western State Medical University named after I.I. Mechnikov Email: [email protected] ORCID iD: 0000-0002-6551-4147 SPIN-code: 3686-3605 Scopus Author ID: 7801562649 ResearcherId: P-2183-2014 MD, Dr. Sci. (Med.), Professor, Professor of the Russian Academy of Sciences Russian Federation, Saint Petersburg; Saint PetersburgElena V. Misharina D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductive Medicine Author for correspondence. Email: [email protected] MD, Cand. Sci. (Med.) Russian Federation, Saint PetersburgAnna A. Shagina Medical Diagnostic Center (Genetic Medical Center) Email: [email protected] ORCID iD: 0000-0002-2276-6803 Russian Federation, Saint Petersburg Maria L. Sergeeva North-Western State Medical University named after I.I. Mechnikov Email: [email protected] ORCID iD: 0000-0002-3091-3834 Russian Federation, Saint Petersburg

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