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

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This study investigated the TGF-β1 gene -509C/T polymorphism in women with deep infiltrating endometriosis and found no statistically significant differences in its frequency between affected and unaffected groups.

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This study tested whether the TGF-β1 gene −509C/T polymorphism, which could affect biologically active TGF-β1, is associated with deep infiltrating endometriosis by comparing women with deep infiltrating endometriosis (n=72) to gynecologic patients without endometriosis symptoms (n=95) and healthy females (n=93). TGF-β1 −509C/T genotypes were determined using PCR-restriction fragment length polymorphism analysis. The authors found no statistically significant differences in −509C/T polymorphism frequency between the groups, concluding that their results do not support an association between this polymorphism and increased risk of deep infiltrating endometriosis. This paper is centrally about endometriosis — it evaluates whether a specific TGF-β1 genetic polymorphism is linked to deep infiltrating endometriosis risk.

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Abstract

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.
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Abstract

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 association between the −509C/T polymorphism of the TGF-β1 gene and an increased risk of deep infiltrating endometriosis. Similar content being viewed by others

References

Vercellini P, Aimi G, Panazza S, Vicentini S, Pisacreta A, Crosignani PG. Deep endometriosis conundrum: evidence in favour of a peritoneal origin. Fertil Steril. 2000;73: 1043–1046. Koninkcx PR, Martin DC. Deep endometriosis: a consequence of infiltration or retraction or possibly adenomyosis externa? Fertil Steril. 1992;58: 924–928. Nisolle M, Donnez J. Peritoneal endometriosis, ovarian endometriosis, and adenomyotic nodules of the rectovaginal septum are three different entities. Fertil Steril. 1997;68: 585–596. Cornillie FJ, Oosterlynck D, Lauweryns JM, Koninckx PR. Deeply infiltrating pelvic endometriosis: histology and clinical significance. Fertil Steril. 1990;53: 978–983. Itoga T, Matsumoto T, Takeuchi H, et al. Fibrosis and smooth muscle metaplasia in rectovaginal endometriosis. Pathol Int. 2003;53: 371–375. Cramer DW, Hornstein DW, Ng WG, Barbieri RL. Endometriosis associated with the N314D muatation of galactose-I-phosphate uridyl transferase (GALT). Mol Hum Reprod. 1996;2: 149–152. Georgiou I, Syrrou M, Bouba I, et al. Association of estrogen receptor gene polymorphism with endometriosis. Fertil Steril. 1999;72: 164–166. Hadfield RM, Manek S, Weeks DE, Mardon HJ, Barlow DH, Kennedy SH;. OXEGENE Collaborative Group. Linkage and association studies of the relationship between endometriosis and genes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1. Mol Hum Reprod. 2001;7: 1073–1078. Nakago S, Hadfield RM, Zondervan KT, et al. Association between endometriosis and N-acetyl transferase-2 polymorphisms in a UK population. Mol Hum Reprod. 2001;7: 1079–1083. Vigano P, Infantino M, Matrone R, et al. Intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms in endometriosis. Mol Hum Reprod. 2003;9: 47–52. LeRoy EC, Trojanowska MI, Smith EA. Cytokines and human fibrosis. Eur Cytokine Netw. 1990;1: 215–219. Roberts AR. Transforming growth factor-b: activity and efficacy in animal models of wound healing. Wound Repair Regen. 1995;3: 408–418. Border WA, Noble NA. Transforming growth factor beta in tissue fibrosis. N Eng J Med. 1994;331: 1286–1292. Broekelmann TJ, Limper AH, Colby TV, McDonald JA. Transforming growth factor beta 1 is present at sites of extracellular matrix gene expression in human pulmonary fibrosis. Proc Natl Acad Sci U S A. 1991;88: 6642–6646. Chegini N. The role of growth factors in peritoneal healing: transforming growth factor beta (TGF-beta). Eur J Surg. 1997;577: 17–23. Lin RY, Sullivan KM, Argenta PA, Meuli M, Lorenz HP, Adzick NS. Exogenous transforming growth factor beta amplifies its own expression and induces scar formation in a model of human fetal skin repair. Ann Surg. 1995;222: 146–154. Shah M, Foreman DM, Ferguson MW. Neutralisation of TGF-beta 1 and TGF-beta and TGF-beta 2 or exogenous addition of TGF-beta 3 to cutaneous rat wounds reduces scarring. J Cell Sci. 1995;108: 985–1002. Lucas PA, Warejcka DJ, Young HE, Lee BY. Formation of abdominal adhesions is inhibited by antibodies to transforming growth factor-beta 1. J Surg Res. 1996;65: 135–138. Oosterlynck DJ, Meuleman C, Waer M, Koninckx PR. Transforming growth factor-beta activity is increased in women with endometriosis. Obstet Gynecol. 1994;83: 287–292. Pizzo A, Salmeri FM, Ardita FV, Sofo V, Tripepi M, Marsico S. Behaviour of cytokine levels in serum and peritoneal fluid of women with endometriosis. Gynecol Obstet Invest. 2002;54: 82–87. Kyama CM, Overbergh L, Debrock S, et al. Increased peritoneal and endometrial gene expression of biologically active cytokines and growth factors during the menstrual phase in women with endometriosis. Fertil Steril. 2006;85: 1667–1675. Grainger DJ, Heathcote K, Chiano M, et al. Genetic control of the circulating concentration of transforming growth factor type beta 1. Hum Mol Genet. 1999;8: 93–97. Hsieh YY, Chang CC, Tsai FJ, Peng CT, Yeh LS, Lin CC. Polymorphism for transforming growth factor beta 1—509 (TGF-B1-509): association with endometriosis. Biochem Genet. 2005;43: 203–210. Trikalinos TA, Salanti G, Khoury MJ, Ioannidis JP. Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations. Am J Epidemiol. 2006; 163: 300–309. Zondervan KT, Cardon LR, Kennedy SH. What makes a good case-control study? Design issues for complex traits such as endometriosis. Hum Reprod. 2002;17: 1415–1423. Holt VL, Weiss NS. Recommendations for the design of epidemiologic studies of endometriosis. Epidemiology. 2000;11: 654–659. Dunselman GA, Hendrix MG, Bouckaert PX, Evers JL. Functional aspects of peritoneal macrophages in endometriosis of women. J Reprod Fertil. 1998;82: 707–710. Oral E, Olive DL, Arici A. The peritoneal environment in endometriosis. Hum Reprod Update. 1996;2: 385–398. D’Hooghe TM, Xiao L, Hill JA. Cytokine profiles in autologous peritoneal fluid and peripheral blood of women with deep and superficial endometriosis. Arch Gynecol Obstet. 2001; 265: 40–44. Author information Authors and Affiliations Corresponding author Rights and permissions About this article Cite this article van Kaam, K.J.A.F., Romano, A., Dunselman, G.A.J. et al. Transforming Growth Factor β1 Gene Polymorphism —509C/T in Deep Infiltrating Endometriosis. Reprod. Sci. 14, 367–373 (2007). https://doi.org/10.1177/1933719107303436 Published: Issue date: DOI: https://doi.org/10.1177/1933719107303436

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Condition tags

endometriosisdie_deep_infiltrating

MeSH descriptors

Endometriosis Polymorphism, Single Nucleotide Transforming Growth Factor beta1 Cytosine DNA DNA DNA Endometriosis Endometriosis Endometriosis Endometriosis Female Genotype Humans Polymerase Chain Reaction Thymine Transforming Growth Factor beta1

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