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

Teramoto M, Mariko Teramoto, Kitawaki J, Jo Kitawaki, Koshiba H, Hisato Koshiba, Yui Kitaoka, Kitaoka Y, Obayashi H, Hiroshi Obayashi, Goji Hasegawa, Hasegawa G, Nakamura N, Naoto Nakamura, Yoshikawa T, Toshikazu Yoshikawa, Masaki Matsushita, Matsushita M, Maruya E, Etsuko Maruya, Saji H, Hiroh Saji, Ohta M, Mitsuhiro Ohta, Honjo H, Hideo Honjo
American journal of reproductive immunology (New York, N.Y. : 1989) · 2004 · vol. 51(5) , pp. 352–7 · doi:10.1111/j.1600-0897.2004.00168.x · PMID:15212671
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This study found that TNFA promoter polymorphism, specifically the U01 haplotype associated with HLA-B*0702, is linked to endometriosis susceptibility, while TNFR2 polymorphism is not.

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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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Condition tags

endometriosis

MeSH descriptors

Antigens, CD Endometriosis Polymorphism, Single Nucleotide Receptors, Tumor Necrosis Factor Tumor Necrosis Factor-alpha Adult Adult Antigens, CD Antigens, CD Case-Control Studies Case-Control Studies Data Interpretation, Statistical Data Interpretation, Statistical DNA DNA DNA DNA Endometriosis Endometriosis Endometriosis

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