Skip to main content

Advertisement

SpringerLink
Log in

Polymorphism for Transforming Growth Factor Beta 1-509 (TGF-B1-509): Association with Endometriosis

  • Published:
Biochemical Genetics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • 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

    Article  PubMed  Google Scholar 

  • American Fertility Society. (1985). Revised American Fertility Society classification of endometriosis: (1985). Fertil. Steril. 43:351–352.

    Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan

    Yao-Yuan Hsieh, Chi-Chen Chang & Lian-Shun Yeh

  2. Department of Pediatrics and Medical Genetics, China Medical University Hospital, No. 2 Yuh-Der Road, Taichung, Taiwan

    Fuu-Jen Tsai & Ching-Tien Peng

  3. Department of Family Medicine, China Medical University Hospital, Taichung, Taiwan

    Cheng-Chieh Lin

  4. Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan

    Yao-Yuan Hsieh

Authors
  1. Yao-Yuan Hsieh
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Chi-Chen Chang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Fuu-Jen Tsai
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ching-Tien Peng
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Lian-Shun Yeh
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Cheng-Chieh Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Fuu-Jen Tsai.

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10528-005-5211-x

Key Words

Search

Navigation