Results
| PMID | 17644809 |
| Gene Name | TGFB1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | -509C/T |
| Population size | 260 |
| Population details | 260 (72 women with deep infiltrating endometriosis, 95 gynecological patients without symptoms of endometriosis, 93 healthy females) |
| Sex | Female |
| Associated genes | TGF-beta 1 |
| Other associated phenotypes |
Endometriosis |
|
Reprod Sci. 2007 May;14(4):367-73. van Kaam, K J A F| Romano, A| Dunselman, G A J| Groothuis, P G Research Institute GROW, University Hospital of Maastricht, Maastricht, Netherlands. kvk@sgyn.azm.nl Deep infiltrating endometriosis is characterized by the presence of nodular lesions largely composed of fibromuscular tissue. Transforming growth factor beta 1 (TGF-beta1) 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-beta1, such as TGF-beta 1 gene polymorphisms, lead to an increased risk of developing deep infiltrating endometriosis. The frequency of the -509C/T polymorphism of the TGF-beta 1 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 association between the -509C/T polymorphism of the TGF-beta 1 gene and an increased risk of deep infiltrating endometriosis. Mesh Terms: Cytosine| DNA/genetics/isolation & purification| Endometriosis/*genetics/pathology/physiopathology/surgery| Female| Genotype| Humans| Polymerase Chain Reaction| *Polymorphism, Single Nucleotide| Thymine| Transforming Growth Factor beta1/*genetics |
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