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. 2004 May;51(5):352-7.
doi: 10.1111/j.1600-0897.2004.00168.x.

Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031, -863 and -857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility

Mariko Teramoto  1 , Jo Kitawaki, Hisato Koshiba, Yui Kitaoka, Hiroshi Obayashi, Goji Hasegawa, Naoto Nakamura, Toshikazu Yoshikawa, Masaki Matsushita, Etsuko Maruya, Hiroh Saji, Mitsuhiro Ohta, Hideo Honjo
Affiliations

Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031, -863 and -857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility

Mariko Teramoto et al. Am J Reprod Immunol. 2004 May.

Abstract

Problem: Tumor necrosis factor (TNF)-alpha 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.

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