Genetic Contribution of Tumor Necrosis Factor (TNF)-α Gene Promoter (−1031, −863 and −857) and TNF Receptor 2 Gene Polymorphisms in Endometriosis Susceptibility
Article first published online: 7 MAY 2004
American Journal of Reproductive Immunology
Volume 51, Issue 5, pages 352–357, May 2004
How to Cite
Teramoto, M., Kitawaki, J., Koshiba, H., Kitaoka, Y., Obayashi, H., Hasegawa, G., Nakamura, N., Yoshikawa, T., Matsushita, M., Maruya, E., Saji, H., Ohta, M. and Honjo, H. (2004), Genetic Contribution of Tumor Necrosis Factor (TNF)-α Gene Promoter (−1031, −863 and −857) and TNF Receptor 2 Gene Polymorphisms in Endometriosis Susceptibility. American Journal of Reproductive Immunology, 51: 352–357. doi: 10.1111/j.1600-0897.2004.00168.x
- Issue published online: 7 MAY 2004
- Article first published online: 7 MAY 2004
- Submitted October 3, 2003; revised January 5, 2004; accepted January 14, 2004.
- HLA-class I;
- TNF gene polymorphisms;
- TNF receptor gene polymorphisms;
Problem: Tumor necrosis factor (TNF)-α is a major cytokine involved in inflammatory and immune function. The aim of this study was to investigate whether polymorphisms at positions −1031, −863 and −857 in the TNF gene promoter region (TNFA) and TNF receptor type 2 gene (TNFR2) are responsible in part for genetic susceptibility to endometriosis.
Methods of study: TNFA and TNFR2 polymorphisms were determined in 123 patients with endometriosis and 165 fertile healthy women by the polymerase chain reaction (PCR) – preferential homoduplex formation assay and PCR-restriction fragment length polymorphism, respectively.
Results: The frequency of the TNFA-U01 haplotype was increased significantly in patients with endometriosis compared with controls (P = 0.045, OR = 1.45). The TNFA-U01 haplotype was strongly associated with HLA-B*0702. No difference was found in TNFR2 polymorphism between patients and controls.
Conclusion: Our results indicated that TNFA promoter polymorphism was associated with susceptibility to endometriosis. However, this association was not independent of HLA-class I polymorphisms.