Combined Effect of the PGR +331C > T, CYP17A1 -34A > G and CYP19A1 1531G > A Polymorphisms on the Risk of Developing Endometriosis
Open accessAbstract
Purpose To evaluate the magnitude of the association of the polymorphisms of the genes PGR, CYP17A1 and CYP19A1 in the development of endometriosis. Methods This is a retrospective case-control study involving 161 women with endometriosis (cases) and 179 controls. The polymorphisms were genotyped by real-time polymerase chain reaction using the TaqMan system. The association of the polymorphisms with endometriosis was evaluated using the multivariate logistic regression. Results The endometriosis patients were significantly younger than the controls (36.0 ± 7.3 versus 38.0 ± 8.5 respectively, p = 0.023), and they had a lower body mass index (26.3 ± 4.8 versus 27.9 ± 5.7 respectively, p = 0.006), higher average duration of the menstrual flow (7.4 ± 4.9 versus 6.1 ± 4.4 days respectively, p = 0.03), and lower average time intervals between menstrual periods (25.2 ± 9.6 versus 27.5 ± 11.1 days respectively, p = 0.05). A higher prevalence of symptoms of dysmenorrhea, dyspareunia, chronic pelvic pain, infertility and intestinal or urinary changes was observed in the case group when compared with the control group. The interval between the onset of symptoms and the definitive diagnosis of endometriosis was 5.2 ± 6.9 years. When comparing both groups, significant differences were not observed in the allelic and genotypic frequencies of the polymorphisms PGR +331C > T, CYP17A1 -34A > G and CYP19A1 1531G > A, even when considering the symptoms, classification and stage of the endometriosis. The combined genotype PGR +331TT/CYP17A1 -34AA/CYP19A11531AA is positively associated with endometriosis (odds ratio [OR] = 1.72; 95% confidence interval [95%CI] = 1.09–2.72). Conclusions The combined analysis of the polymorphisms PGR-CYP17A1-CYP19A1 suggests a gene-gene interaction in the susceptibility to endometriosis. These results may contribute to the identification of biomarkers for the diagnosis and/or prognosis of the disease and of possible molecular targets for individualized treatments.
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Previous studies of associations between various CYP19A1 polymorphisms and endometriosis have been inconsistent.
“While SNPs in CYP19A1 have been associated with sexsteroid hormone levels and other oestrogen-dependent diseases including endometriosis, the results of previous studies of the associations between various CYP19A1 polymorphisms and endometriosis have been inconsistent up to a certain degree.”
From Polymorphisms in the 3<a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"> <a:msup> <a:mrow/> <a:mrow> <a:mo>′</a:mo> </a:mrow> </a:msup> </a:math>UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis (2020) · cites this paper as [28]
SNPs in CYP19A1 have been associated with sex-steroid hormone levels and other oestrogen-dependent diseases including endometriosis.
“While SNPs in CYP19A1 have been associated with sexsteroid hormone levels and other oestrogen-dependent diseases including endometriosis, the results of previous studies of the associations between various CYP19A1 polymorphisms and endometriosis have been inconsistent up to a certain degree.”
From Polymorphisms in the 3<a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"> <a:msup> <a:mrow/> <a:mrow> <a:mo>′</a:mo> </a:mrow> </a:msup> </a:math>UTR Region of ESR2 and CYP19A1 Genes and Its Influence on Allele-Specific Gene Expression in Endometriosis (2020) · cites this paper as [28]
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Polymorphisms and endometriosis: A systematic review and meta-analyses
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“Many studies of CYP19A1 polymorphisms in relation to endometriosis risk have been published; however, their findings were not confirmed by any additional researches on affected populations [27, 28].”
ResultPolymorphisms in the 3′UTR Region of ESR2 and CYP19A1 Genes in Women with Endometriosis
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Association between single nucleotide polymorphism of the CYP19A1 and ESR2 genes and endometriosis
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- Authors
- Cardoso, J. V., Machado, D. E., Ferrari, R., Silva, M. C. D., Berardo, P. T., & Perini, J. A.
- Affiliations
- Universidade Estadual da Zona Oeste (BR)
- Universidade Federal do Rio de Janeiro (BR)
- Hospital Federal dos Servidores do Estado (BR)
- Corresponding author
- Perini, Jamila Alessandra
- ORCID
- Venue
- Revista Brasileira de Ginecologia e Obstetrícia / RBGO Gynecology and Obstetrics
- Published
- 2017-06
- Volume
- 39
- Issue
- 06
- Pages
- 273-281
- ISSN
- 0100-7203 (ISSN-L)
- 1806-9339
- PMC
- PMC10309446
- OpenAlex
- W2625107191
- Cited by
- 14
- References
- 28
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 2 · 2020: 3 · 2019: 4 · 2017: 1
- FWCI
- 2.54
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- Locations
- Revista Brasileira Ginecologia e Obstetrícia (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (publishedVersion, other-oa)
- Americanae (AECID Library) (submittedVersion, cc-by-nc)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Plant and fungal interactions
- Keywords
- endometriosis, PGR, CYP17A1, CYP19A1, aromatase, genetic polymorphism, genetic susceptibility, combined genotypes, endometriosis risk, dysmenorrhea
- MeSH terms
- Adolescent, Adult, Aromatase, Endometriosis, Female, Genital Diseases, Female, Humans, Polymorphism, Genetic, Receptors, Progesterone, Retrospective Studies, Steroid 17-alpha-Hydroxylase, Case-Control Studies, Risk Assessment, Young Adult
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