The UGT2B4 gene polymorphism as a factor of developing endometriosis

Irina Ponomarenko, А.V. Polonikov, I.N. Verzilina, И. Н. Сорокина, В. С. Орлова, Mikhail Churnosov
In: Voprosy ginekologii, akušerstva i perinatologii · 2019 · vol. 18(3) , pp. 15–20 · doi:10.20953/1726-1678-2019-3-15-20 · W2964494947
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study investigated the association between UGT2B4 gene polymorphisms, specifically rs2013573 and rs13111134, and the development of endometriosis.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-13 · read from full text ⓘ

This case-control study examined associations between two UGT2B4 gene polymorphisms (rs2013573 and rs13111134) and development of endometriosis in 395 affected women and 981 controls, using genotyping and statistical analysis across genotypic/allelic models. The authors found that rs2013573 G/G genotype (OR=1.31) and G allele (OR=1.29) were risk factors, while rs2013573 allele A and the A/A haplotype at rs2013573–rs13111134 were protective (OR around 0.74–0.77 for allele A; OR=0.77 for the A/A haplotype). They further report that these loci are located in regulatory regions in liver cells, influence transcription factor motif affinity, affect expression of UGT2B4 and UGT2A3P7, and are linked to amino acid–changing variants and a stop codon in UGT2B4. This paper is centrally about endometriosis — it evaluates UGT2B4 rs2013573 and rs13111134 polymorphisms as genetic factors for developing endometriosis.

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Abstract

Результаты изучения ассоциации полиморфных локусов rs2013573 и rs13111134 гена UGT2B4 с развитием эндометриоза
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Materials

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 . Results. 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. Conclusion. Polymorphism rs2013573 and rs13111134 in the UGT2B4 gene is associated with the development of endometriosis. Key words: polymorphism, endometriosis. For 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). DOI: 10.20953/1726-1678-2019-3-15-20

Materials

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 . Results. 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. Conclusion. Polymorphism rs2013573 and rs13111134 in the UGT2B4 gene is associated with the development of endometriosis. Key words: polymorphism, endometriosis. For 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). DOI: 10.20953/1726-1678-2019-3-15-20

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