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-beta 1) 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-beta 1 gene as well as TGF-beta 1 mRNA expression in eutopic endometrium tissue of patients with and without endometriosis among a group of Iranian women. Methods 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-beta 1 mRNA was determined using Real-Time PCR assay in 15 eutopic endometrium tissue of women with endometriosis and 15 healthy controls. Results There was a significant association for allele and genotype frequencies of rs1800469 variant and endometriosis. No significant difference for TGF-beta 1 expression was observed between eutopic endometrium of patients and healthy group. Also, evaluation of TGF-beta 1expression across the menstrual cycle showed the same level of TGF-beta 1 among case and control subjects. Conclusion Our investigations indicated enough evidence for the effect of TGF-beta 1 genetic variant on endometriosis risk in an Iranian population. Furthermore, we could not find any relations between TGF-beta 1 mRNA expression and susceptibility to endometriosis.