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Association between single nucleotide polymorphism of the CYP19A1 and ESR2 genes and endometriosis

  • General Gynecology
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

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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Availability of data and material

All data generated and/or analyzed during this study are included in this published article.

Code availability

Data will not be shared, because they are part of a clinical database.

Abbreviations

CI:

Confidence intervals

CYP19A1 :

Cytochrome P450 Family 19 Subfamily A Member 1

ESR2 :

Estrogen receptor 2

HRM:

High-resolution melter

OR:

Odds ratios

rASRM:

The Revised American Society for Reproductive Medicine

SNP:

Single nucleotide polymorphism

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Acknowledgements

Authors acknowledge the financial support provided by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland, to conduct the study. Thank Bożena Góralczyk M.D. Ph.D. and Tomasz Szaflik M.D. Ph.D. for help in collecting research material.

Funding

This work was supported by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland from the Statutory Development Fund.

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Authors and Affiliations

  1. Laboratory of Cancer Genetics, Department of Pathology, Polish Mother’s Memorial Hospital Research Institute, Rzgowska 281/289, 93-338, Lodz, Poland

    Beata Smolarz & Hanna Romanowicz

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  1. Beata Smolarz
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  2. Hanna Romanowicz
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Contributions

Conceived and designed the experiments: BS. Performed the experiments – case group: BS. Case group design and collect: HR. Performed the experiments – control group: BS. Analysed data: BS. Contributed reagents/materials/analysis tools BS. Contributed to the writing of manuscript: BS. All authors approved the final manuscript.

Corresponding author

Correspondence to Beata Smolarz.

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Conflict of interests

Authors declare no conflict of interest. Author Beata Smolarz declares that she has no conflict of interest. Author Hanna Romanowicz declares that she has no conflict of interest.

Ethics approval and consent to participate

This work was supported by the Institute of Polish Mother’s Memorial Hospital, Lodz, Poland from the Statutory Development Fund. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Consent to participate

Informed consent was obtained from all individual participants included in the study. A formal consent was also issued by the Bioethical Committee of the Institute of the Polish Mother’s Memorial Hospital in Lodz (Approval number, 8/2016). The procedures used in this study adhere to the tenets of the Declaration of Helsinki.

Consent for publication

Informed consent was obtained from all individual participants included in the study. A formal consent was also issued by the Bioethical Committee of the Institute of the Polish Mother’s Memorial Hospital in Lodz (Approval number, 8/2016).

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Smolarz, B., Romanowicz, H. Association between single nucleotide polymorphism of the CYP19A1 and ESR2 genes and endometriosis. Arch Gynecol Obstet 304, 439–445 (2021). https://doi.org/10.1007/s00404-021-06051-5

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