Association between single nucleotide polymorphism of the CYP19A1 and ESR2 genes and endometriosis
Abstract
Purpose Endometriosis is a frequent gynaecological condition, both in Poland and in the world. The development of this disease is supported by hormonal, immunological and environmental factors. During the recent years, a particular attention has been focused on the genetic polymorphisms which may be of particular significance for the increased incidence rates of endometriosis. According to literature data, Oestrogen Receptor 2 (ESR2) and Cytochrome P450 Family 19 Subfamily A Member 1 (CYP19A1) genes may be accounted to the potential risk factors of infertility associated with endometriosis. The reported research was aimed to evaluate the association between single nucleotide polymorphisms (SNPs) rs17179740 of ESR2 and rs2899470 of CYP19A1 genes and the incidence of endometriosis.Methods The study material included blood specimens, collected from patients (n = 200) with endometriosis. Blood samples from age-matched, endometriosis-free women (n = 200) served as control. The High-Resolution Melter (HRM) technique was applied for polymorphism analysis.Results Regarding rs2899470 polymorphism TT homozygotes was significantly more prevalent among the patients with endometriosis than in the controls (OR 2.19; p = 0.04). In case of rs17179740, GG homozygotes, as well as AG-AA genotypes, were significantly more prevalent among the endometriosis patients (OR 2.48, p = 0.04 and OR 2.36, p = 0.04, respectively).Conclusion Summing up, the investigated polymorphisms of ESR2 and CYP19A1 gene are associated with the observed incidence of endometriosis.
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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 [202]
The polymorphisms rs17179740 of the ESR2 gene and rs2899470 of the CYP19A1 gene are associated with the occurrence of endometriosis.
“Recent studies have shown that the polymorphisms rs17179740 of the ESR2 gene and rs2899470 of the CYP19A1 gene are associated with the occurrence of endometriosis [202].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [202]
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 [202]
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 [202]
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 [202]
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- Authors
- Smolarz, B., & Romanowicz, H.
- Affiliations
- Polish Mother’s Memorial Hospital Research Institute (PL)
- Corresponding author
- Smolarz, Beata
- Venue
- Archives of Gynecology and Obstetrics
- Published
- 2021-04-07
- Volume
- 304
- Issue
- 2
- Pages
- 439-445
- ISSN
- 0003-9128 (ISSN-L)
- 0932-0067
- 1432-0711
- OpenAlex
- W3148119521
- Cited by
- 7
- References
- 43
- Citations by year
- 2026: 1 · 2025: 2 · 2023: 1 · 2022: 2 · 2021: 1
- FWCI
- 0.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Gynecology and Obstetrics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- This work was supported by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland from the Statutory Development Fund
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- endometriosis, single nucleotide polymorphisms, CYP19A1, ESR2, estrogen receptor 2, aromatase, genetic susceptibility, infertility
- MeSH terms
- Adult, Aged, Aromatase, Endometriosis, Female, Genotype, Humans, Infertility, Middle Aged, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Estrogen Receptor beta
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