Polymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women with Endometriosis
Abstract
Objective ESR2 and CYP19A1 genes play a major role in the hormonal control of women with endometriosis. The aim of the study was to analyze single nucleotide polymorphisms (SNPs) in the 3'UTR region of ESR2 and CYP19A1 genes. The study aimed at localisation of new polymorphisms, the nucleotide variants of which determine the level of susceptibility to endometriosis.Study design The study included n = 200 patients: 100 with endometriosis and 100 healthy controls. The Sanger's sequencing method was applied for polymorphism analysis.Results Statistically significant correlations were identified between new, not previously described, two SNPs of ESR2 gene and endometriosis: rs4986938 (G>A) and rs928554 (A>G). In the case of rs4986938 polymorphism, the genotype AA was found to decrease the risk of endometriosis (OR = 0.24 95 % PU 0.05-1.22, p = 0.04). Analysis of the rs928554 polymorphism revealed that the occurrence of the AG genotype reduced the risk of endometriosis (OR = 0.38 95 % PU 0.21-0.71, p = 0.002). There were no differences in the distribution of genotypes of the polymorphisms rs10046 (C>T) and rs4646 (C>A) of CYP19A1 gene between patients and control.Conclusions Further studies are necessary in groups with higher numbers of patients to explain whether the above-mentioned polymorphisms may be the risk factors for endometriosis.
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In women with endometriosis, there is a significant increase in the expression of the ESR2 gene.
“In the studied group of women with endometriosis, a significant increase in the expression of the ESR2 gene was found, which may indicate the participation of this factor in the pathogenesis of endometriosis [200].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [200]
Statistically significant correlations exist between the SNPs rs4986938 and rs928554 and endometriosis.
“The study identified statistically significant correlations between the new, previously unseen, two SNPs and endometriosis: rs4986938 and rs928554 [200,202].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [200]
Studies draw attention to the significant role of estrogen receptor genes, especially the ESR2 gene and the CYP19A1 gene, for the susceptibility and occurrence of endometriosis.
“Literature data indicate that studies draw attention to the significant role of estrogen receptor genes, especially the ESR2 gene and the CYP19A1 gene for the susceptibility and occurrence of endometriosis [199,200,201].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [200]
The polymorphisms rs4986938 and rs928554 of the ESR2 gene are associated with the occurrence of endometriosis.
“The results obtained during the analysis indicate that the polymorphisms rs4986938 and rs928554 of the ESR2 gene are associated with the occurrence of endometriosis.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [200]
The AG genotype of rs928554 reduces the risk of endometriosis.
“A similar effect was demonstrated in the presence of the AG genotype of rs928554.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [200]
ESR2 may participate in the pathogenesis of endometriosis.
“In the studied group of women with endometriosis, a significant increase in the expression of the ESR2 gene was found, which may indicate the participation of this factor in the pathogenesis of endometriosis [200].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [200]
The AA genotype of rs4986938 reduces the risk of endometriosis.
“In the case of rs4986938, the AA genotype was found to reduce the risk of endometriosis.”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [200]
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Smolarz, B., Szyłło, K., & Romanowicz, H. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221910554 · Cited by 560 · see citing works
Self-citationSmolarz, B., Szaflik, T., Romanowicz, H., & Szyłło, K. (2020) · Disease Markers · doi:10.1155/2020/8845704 · Cited by 27 · see citing works
“The results, obtained during that analysis, demonstrated that rs4986938 and rs928554 polymorphisms of the ESR2 gene are associated with the occurrence of endometriosis [31].”
ResultSelf-citationAssociation between single nucleotide polymorphism of the CYP19A1 and ESR2 genes and endometriosis
Smolarz, B., & Romanowicz, H. (2021) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-021-06051-5 · Cited by 7 · see citing works
Self-citation
- Authors
- Szaflik, T., Smolarz, B., Romanowicz, H., Bryś, M., Forma, E., & Szyłło, K.
- Affiliations
- Polish Mother’s Memorial Hospital Research Institute (PL)
- University of Łódź (PL)
- Corresponding author
- Smolarz, Beata
- Venue
- European Journal of Obstetrics & Gynecology and Reproductive Biology
- Publisher
- Elsevier BV
- Published
- 2020-07
- Volume
- 250
- Pages
- 241-245
- ISSN
- 0028-2243 (ISSN-L)
- 0301-2115
- OpenAlex
- W3026620598
- Cited by
- 8
- References
- 37
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 1
- FWCI
- 1.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Obstetrics & Gynecology and Reproductive Biology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Polish Ministry of Science and Higher Education, Polish Mother’s Memorial Hospital Research Institute Young Researcher Internal (Grant no. (2016/VI/13-MN))
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
- Keywords
- endometriosis, ESR2, CYP19A1, estrogen receptor beta, aromatase, 3' untranslated region, single nucleotide polymorphisms, genetic susceptibility, rs4986938, estrogen metabolism
- MeSH terms
- Aromatase, Endometriosis, Female, Genotype, Humans, Risk Factors, Case-Control Studies, Genetic Predisposition to Disease, 3' Untranslated Regions, Polymorphism, Single Nucleotide, Estrogen Receptor beta
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