{"paper_id":"c3862934-78b3-4f20-b2ed-da5ad537a645","body_text":"Gynecology, Obstetrics and Perinatology - Gynecology, Obstetrics and Perinatology - 2019 volume 18 issue 3\nThe UGT2B4 gene polymorphism as a factor of developing endometriosis\nAuthors / Institutions\nI.V.Ponomarenko /\nA.V.Polonikov /\nIrina N. Verzilina /\nInna N. Sorokina /\nValentina S. Orlova /\nM.I.Churnosov /\nThe objective of the work was to study associations between rs2013573 and rs13111134 polymorphisms in the UGT2B4 gene and the development of endometriosis.\nMaterials and methods. The work had a «case-control» design. The study included 1376 women: 395 patients with endometriosis and 981 women in the control group. Genotyping of rs2013573 and rs13111134 polymorphisms in the UGT2B4 gene was performed and its associations with the development of endometriosis were studied .\nResults. As has been found, risk factors for the development of endometriosis are the G/G genotype (OR = 1.31) and G allele (OR = 1.29) of rs2013573 polymorphism. The allele A rs2013573 (additive and dominant models, OR = 0.74–0.77) and the АА haplotype at polymorphic loci rs2013573-rs13111134 of the UGT2B4 gene (OR = 0.77) have a protective significance for the development of disease. These polymorphic loci possess a marked regulatory potential (are located in the modified histone regions that mark «active» enhancers and promoters in liver cells, and have an impact on the affinity of DNA regulatory motifs for 8 transcription factors), have a significant effect on gene expression (UGT2B4 and UGT2A3P7) and are linked to polymorphisms conditioning the change of amino acids (Asp458Glu, Arg459Gly) in the UGT2B4 polypeptide and the appearance of a stop codon in the UGT2B4 gene.\nConclusion. Polymorphism rs2013573 and rs13111134 in the UGT2B4 gene is associated with the development of endometriosis.\nKey words: polymorphism, endometriosis.\nFor citation: Ponomarenko I.V., Polonikov А.V., Verzilina I.N., Sorokina I.N., Orlova V.S., Churnosov M.I. The UGT2B4 gene polymorphism as a factor of developing endometriosis. Vopr. ginekol. akus. perinatol. (Gynecology, Obstetrics and Perinatology). 2019; 18(3): 15–20. (In Russian).\nDOI: 10.20953/1726-1678-2019-3-15-20\nMaterials and methods. The work had a «case-control» design. The study included 1376 women: 395 patients with endometriosis and 981 women in the control group. Genotyping of rs2013573 and rs13111134 polymorphisms in the UGT2B4 gene was performed and its associations with the development of endometriosis were studied .\nResults. As has been found, risk factors for the development of endometriosis are the G/G genotype (OR = 1.31) and G allele (OR = 1.29) of rs2013573 polymorphism. The allele A rs2013573 (additive and dominant models, OR = 0.74–0.77) and the АА haplotype at polymorphic loci rs2013573-rs13111134 of the UGT2B4 gene (OR = 0.77) have a protective significance for the development of disease. These polymorphic loci possess a marked regulatory potential (are located in the modified histone regions that mark «active» enhancers and promoters in liver cells, and have an impact on the affinity of DNA regulatory motifs for 8 transcription factors), have a significant effect on gene expression (UGT2B4 and UGT2A3P7) and are linked to polymorphisms conditioning the change of amino acids (Asp458Glu, Arg459Gly) in the UGT2B4 polypeptide and the appearance of a stop codon in the UGT2B4 gene.\nConclusion. Polymorphism rs2013573 and rs13111134 in the UGT2B4 gene is associated with the development of endometriosis.\nKey words: polymorphism, endometriosis.\nFor citation: Ponomarenko I.V., Polonikov А.V., Verzilina I.N., Sorokina I.N., Orlova V.S., Churnosov M.I. The UGT2B4 gene polymorphism as a factor of developing endometriosis. Vopr. ginekol. akus. perinatol. (Gynecology, Obstetrics and Perinatology). 2019; 18(3): 15–20. (In Russian).\nDOI: 10.20953/1726-1678-2019-3-15-20","source_license":"CC0","license_restricted":false}