Transforming Growth Factor β1 Gene Polymorphism –509C/T in Deep Infiltrating Endometriosis

Deep infiltrating endometriosis is characterized by the presence of nodular lesions largely composed of fibromuscular tissue. Transforming growth factor beta 1 (TGF-β1) is the cytokine most causatively associated with disorders characterized by fibrosis throughout the body. Therefore, the hypothesis was tested that mechanisms increasing the fraction of biologically active TGF-β1, such as TGF-β1 gene polymorphisms, lead to an increased risk of developing deep infiltrating endometriosis. The frequency of the-509C/T polymorphism of the TGF-β1 gene was tested in women with deep infiltrating endometriosis (n = 72), gynecological patients without symptoms of endometriosis (n = 95) and healthy females (n = 93). Detection of the-509C/T polymorphisms was performed using PCR-restriction fragment length polymorphism analysis. We did not observe statistically significant differences in the frequency of the-509C/T polymorphism between the groups. Our study does not support an associ-ation between the −509C/T polymorphism of the TGF-β1 gene and an increased risk of deep infil-trating endometriosis. KEY WORDS: Endometriosis, TGF-beta, polymorphism,-509C/T. by controversy. Theories that have been developed on this subject favor the argument that deep endometriosi