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Reproductive Sciences
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Transforming Growth Factor ß1 Gene Polymorphism —509C/T in Deep Infiltrating Endometriosis

K. J. A. F. van Kaam, MD

University Hospital of Maastricht, kvk{at}sgyn.azm.nl

A. Romano, PhD

Research Institute GROW, University of Maastricht, Maastricht, Netherlands

G. A. J. Dunselman, MD, PhD

University Hospital Maastricht, Department of Obstetrics and Gynaecology, Maastricht, Netherlands

P. G. Groothuis, PhD

University Hospital Maastricht, Department of Obstetrics and Gynaecology, Maastricht, Netherlands

Deep infiltrating endometriosis is characterized by the presence of nodular lesions largely composed of fibromuscular tissue. Transforming growth factor beta 1 (TGF-ß1) 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-ß1, such as TGF-ß 1 gene polymorphisms, lead to an increased risk of developing deep infiltrating endometriosis. The frequency of the -509C/T polymorphism of the TGF-ß 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-ß 1 gene and an increased risk of deep infiltrating endometriosis.

Key Words: Endometriosis • TGF-beta • polymorphism • -509C/T.

Reproductive Sciences, Vol. 14, No. 4, 367-373 (2007)
DOI: 10.1177/1933719107303436
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 Hum Reprod UpdateHome page
C.B. Tempfer, M. Simoni, B. Destenaves, and B.C.J.M. Fauser
Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis
Hum. Reprod. Update, January 1, 2009; 15(1): 97 - 118.
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