Abstract
Transforming growth factor beta (TGF-B) family members are multi-functional cytokines that play a key role in cellular growth, proliferation, and differentiation. The aim of the study was to investigate whether the TGF-B1-509 gene polymorphism could be used as a marker of susceptibility in endometriosis. Women were divided into two groups: endometriosis (n = 150) and non-endometriosis (n = 159). Polymorphisms for TGF-B1-509 genes were amplified by polymerase chain reaction and detected after restriction enzyme digestion. Genotypes and allelic frequencies in both groups were compared. Genotype proportions and allele frequencies of TGF-B1 gene polymorphisms differed significantly in both groups. Proportions of C homozygote, heterozygote, and T homozygote for TGF-B1 gene polymorphisms were 9.3/61.3/29.4% in the endometriosis group and 41.3/58.5/0% in the non-endometriosis group. Alleles C and T for TGF-B1 gene polymorphism were 40/60% (endometriosis) and 70.8/29.2% (non-endometriosis). Association of endometriosis with TGF-B1-509 gene polymorphism exists. T homozygote and T allele for TGF-B1 are associated with higher susceptibility to endometriosis.
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Akoum, A., Jolicoeur, C., and Boucher, A. (2000). Estradiol amplifies interleukin-1-induced monocyte chemotactic protein-1 expression by ectopic endometrial cells of women with endometriosis. J. Clin. Endocrinol. Metab. 85:896–904
American Fertility Society. (1985). Revised American Fertility Society classification of endometriosis: (1985). Fertil. Steril. 43:351–352.
Araria-Goumidi, L., Lambert, J. C., Mann, D. M., Lendon, C., Frigard, B., Iwatsubo, T., Cottel, D., Amouyel, P., and Chartier-Harlin, M. C. (2002). Association study of three polymorphisms of TGF-beta1 gene with Alzheimer's disease. J. Neurol. Neurosurg. Psychiatry 73:62–64.
Bayat, A., Bock, O., Mrowietz, U., Ollier W. E., and Ferguson M. W. (2002a). Genetic susceptibility to keloid disease and transforming growth factor beta 2 polymorphisms. Br. J. Plast. Surg. 55:283–286.
Bayat, A., Watson, J. S., Stanley, J. K., Ferguson, M. W., and Ollier, W. E. (2002b). Novel single nucleotide polymorphisms in the 3′-UTR of the TGFbetaRI and TGFbetaRIII genes. Eur. J. Immunogenet. 29:445–446.
Beranek, M., Kankova, K., Benes, P., Izakovicova-Holla, L., Znojil, V., Hajek, D., Vlkova, E., and Vacha, J. (2002). Polymorphism R25P in the gene encoding transforming growth factor-beta (TGF-beta1) is a newly identified risk factor for proliferative diabetic retinopathy. Am. J. Med. Genet. 109:278–283.
Bijlsma, F. J., van der Horst, A. A., Tilanus, M. G., Rozemuller, E., de Jonge, N., Gmelig-Meyling, F. H., de Weger, R. A. (2002). No association between transforming growth factor beta gene polymorphism and acute allograft rejection after cardiac transplantation. Transpl. Immunol. 10:43– 47.
Chang, C. C., Hsieh, Y. Y., Tsai, F. J., Tsai, C. H., Tsai, H. D, and Lin, C. C. (2002). The proline form of p53 codon 72 polymorphism is associated with endometriosis. Fertil. Steril. 77:43–45
Edmunds, S. C., Kelsell, D. P., Hungerford, J. L., and Cree, I. A. (2002). Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest. Ophthalmol. Vis. Sci. 43:2845–2851.
Ferriani, R. A., Charnock-Jones, D. S., Prentice, A., Thomas, E. J., and Smith, S. K. (1993). Immunohistochemical localization of acidic and basic fibroblast growth factors in normal human endometrium and endometriosis and the detection of their mRNA by polymerase chain reaction. Hum. Reprod. 8:11–16.
Guan, Y. M., Carlberg, M., Bruse, C., and Bergqvist A. (2003). Impact of epidermal growth factor and transforming growth factor beta-1 on the release of fibrinolytic factors from cultured endometrial and ovarian endometriotic stromal cells. Gynecol. Obstet. Invest. 55:7–13.
Hinke, V., Seck, T., Clanget, C., Scheidt-Nave, C., Ziegler, R., and Pfeilschifter, J. (2001). Association of transforming growth factor-beta1 (TGFbeta1) T29—>C gene polymorphism with bone mineral density (BMD), changes in BMD, and serum concentrations of TGF-beta1 in a population-based sample of postmenopausal german women. Calcif. Tissue. Int. 69:315–320.
Holla, L. I., Fassmann, A., Benes, P., Halabala, T., and Znojil, V. (2002). 5 polymorphisms in the transforming growth factor-beta 1 gene (TGF-beta 1) in adult periodontitis. J. Clin. Periodontol. 29:336–341.
Hsieh, Y. Y., Chang, C. C., Tsai, F. J., Wu, J. Y., Tsai, C. C., and Tsai, H. D. (2001a). Androgen receptor trinucleotide polymorphism in endometriosis. Fertil. Steril. 76:412–413.
Hsieh, Y. Y., Tsai, F. J., Chang, C. C., Chen, W. C., Tsai, C. H., Tsai, H. D., and Lin, C. C. (2001b). p21 gene codon 31 arginine/serine polymorphism: Non-association with endometriosis. J. Clin. Lab. Anal. 15:184–187.
Hsieh, Y. Y., Chang, C. C., Tsai, F. J., Hsu, Y., Tsai, H. D., and Tsai, C. H. (2002). Polymorphisms for interleukin-4 (IL-4) -590 promoter, IL-4 intron3, and tumor necrosis factor alpha -308 promoter: Non-association with endometriosis. J. Clin. Lab. Anal. 16:121–126.
Hsieh, Y. Y., Chang, C. C., Tsai, F. J., Yeh, L. S., Lin, C. C., Peng, C. T., and Tsai, C. H. (2003). Insulin-like growth factor II ApaI polymorphism is not associated with endometriosis susceptibility. Genet. Mol. Biol., in press.
Loverro, G., Perlino, E., Maiorano, E., Cormio, G., Ricco, R., Marra, E., Nappi, L., Giannini, T., and Selvaggi, L. (1999). TGF-beta 1 and IGF-1 expression in atrophic post-menopausal endometrium. Maturitas 31:179–184.
Loverro, G., Maiorano, E., Napoli, A., Selvaggi, L., Marra, E., and Perlino, E. (2001) Transforming growth factor-beta 1 and insulin-like growth factor-1 expression in ovarian endometriotic cysts: a preliminary study. Int. J. Mol. Med. 7:423–429.
Lucke, C. D., Philpott, A., Metcalfe, J. C., Thompson, A. M., Hughes-Davies, L., Kemp, P. R., and Hesketh, R. (2001). Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer. Cancer Res. 61:482–485.
Niimi, T., Sato, S., Sugiura, Y., Yoshinouchi, T., Akita, K., Maeda, H., Achiwa, H., Ninomiya, S., Akita, Y., Suzuki, M., Nishio, M., Yoshikawa, K., Morishita, M., Shimizu, S., and Ueda, R. (2002). Transforming growth factor-beta gene polymorphism in sarcoidosis and tuberculosis patients. Int. J. Tuberc. Lung Dis. 6:510–515.
Ohtsuka, T., Yamakage, A., and Yamazaki, S. (2002). The polymorphism of transforming growth factor-beta1 gene in Japanese patients with systemic sclerosis. Br. J. Dermatol. 147:458–463.
Osteen, K. G., Bruner-Tran, K. L., Ong, D., and Eisenberg, E. (2002). Paracrine mediators of endometrial matrix metalloproteinase expression: Potential targets for progestin-based treatment of endometriosis. Ann. NY Acad. Sci. 955:139–146.
Pellicer, A., Albert, C., Mercader, A., Bonilla-Musoles, F., Remohi, J., and Simon, C. (1998). The follicular and endocrine environment in women with endometriosis: Local and systemic cytokine production. Fertil. Steril. 70:425–431.
Pulleyn, L. J., Newton, R., Adcock, I. M., and Barnes, P. J. (2001). TGF beta1 allele association with asthma severity. Hum. Genet. 109:623–627.
Schulte, C. M., Goebell, H., Roher, H. D., and Schulte, K. M. (2001). C-509T polymorphism in the TGFB1 gene promoter: impact on Crohn's disease susceptibility and clinical course? Immunogenetics 53:178–182.
Stanczuk, G. A., Tswana, S. A., Bergstrom, S., Sibanda, and E. N. (2002). Polymorphism in codons 10 and 25 of the transforming growth factor-beta 1 (TGF-beta1) gene in patients with invasive squamous cell carcinoma of the uterine cervix. Eur. J. Immunogenet. 29:417–421.
Sugiura, Y., Niimi, T., Sato, S., Yoshinouchi, T., Banno, S., Naniwa, T., Maeda, H., Shimizu, S., and Ueda, R. (2002). Transforming growth factor beta1 gene polymorphism in rheumatoid arthritis. Ann. Rheum. Dis. 61:826–828.
Vidigal, P. G., Germer, J. J., and Zein, N. N. (2002). Polymorphisms in the interleukin-10, tumor necrosis factor-alpha, and transforming growth factor-beta1 genes in chronic hepatitis C patients treated with interferon and ribavirin. J. Hepatol. 36:271–277.
Vigano, P., Gaffuri, B., Somigliana, E., Busacca, M., Di Blasio, A. M., and Vignali, M. (1998). Expression of intercellular adhesion molecule (ICAM)-1 mRNA and protein is enhanced in endometriosis versus endometrial stromal cells in culture. Mol. Hum. Reprod. 4:1150–1156.
Yamada, Y., Fujisawa, M., Ando, F., Niino, N., Tanaka, M., and Shimokata, H. (2002). Association of a polymorphism of the transforming growth factor-beta1 gene with blood pressure in Japanese individuals. J. Hum. Genet. 47:243–248.
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Hsieh, YY., Chang, CC., Tsai, FJ. et al. Polymorphism for Transforming Growth Factor Beta 1-509 (TGF-B1-509): Association with Endometriosis. Biochem Genet 43, 203–210 (2005). https://doi.org/10.1007/s10528-005-5211-x
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DOI: https://doi.org/10.1007/s10528-005-5211-x