Investigation of TGF-β1 gene variant and expression in a group of Iranian women with endometriosis

Purpose Endometriosis is defined as a common gynecologic and inflammatory disease. Transforming growth factor-beta 1 (TGF-β1) gene and its protein level might play a role in the pathogenesis of endometriosis. The present study aimed for the first time to assess the associations between endometriosis risk and − 509 C/T (rs1800469) variant of the TGF-β1 gene as well as TGF-β1 mRNA expression in eutopic endometrium tissue of patients with and without endometriosis among a group of Iranian women.

Genotyping was carried out in 100 endometriosis patients (cases) with confirmed histological diagnosis of endometriosis and 197 non-endometriosis subjects (controls). The expression level of TGF-β1 mRNA was determined using Real-Time PCR assay in 15 eutopic endometrium tissue of women with endometriosis and 15 healthy controls.

There was a significant association for allele and genotype frequencies of rs1800469 variant and endometriosis. No significant difference for TGF-β1 expression was observed between eutopic endometrium of patients and healthy group. Also, evaluation of TGF-β1expression across the menstrual cycle showed the same level of TGF-β1 among case and control subjects.

Our investigations indicated enough evidence for the effect of TGF-β1 genetic variant on endometriosis risk in an Iranian population. Furthermore, we could not find any relations between TGF-β1 mRNA expression and susceptibility to endometriosis. Similar content being viewed by others

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The authors would like to express their gratitude to all participants enrolled in this project. Funding No funding was obtained. Author information Authors and Affiliations Contributions MB and NS methodology and manuscript writing, MSH methodology and genetic guidance, FSH statistical analysis, MA supervision, SA sample collection and patient management, MMA supervision and review and editing. Corresponding authors Ethics declarations Conflict of interest There was no conflict of interest to report. Ethical approval The study was approved by the ethics committee of Tehran University of Medical Sciences. Informed consent Informed consents were obtained from the study participants. Additional information Publisher's Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Rights and permissions About this article Cite this article Babaei, M., Sarhangi, N., Shahrabi-Farahani, M. et al. Investigation of TGF-β1 gene variant and expression in a group of Iranian women with endometriosis. Arch Gynecol Obstet 304, 1527–1534 (2021). https://doi.org/10.1007/s00404-021-06195-4 Received: Accepted: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s00404-021-06195-4