The tumor necrosis factor-α promoter −1031C polymorphism is associated with decreased risk of endometriosis in a Japanese population

Tasneem Asghar, Shigeki Yoshida, Stephen Kennedy, Kenichi Negoro, Zhuo Wang, Wang Zhuo, Shinya Hamana, Satoru Motoyama, Satoshi Nakago, David Barlow, David H. Barlow, Takeshi Maruo
Human Reproduction · 2004 · vol. 19(11) , pp. 2509–2514 · doi:10.1093/humrep/deh478 · PMID:15319381 · W2083096151
article OA: bronze CC0 ⤵ 23 in-corpus citations
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This study investigated TNF-alpha promoter polymorphisms in a Japanese population, finding the -1031C allele was less frequent in women with stage IV endometriosis compared to controls.

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Abstract

BACKGROUND: Tumor necrosis factor-alpha (TNF-alpha) is a multifunctional proinflammatory cytokine, associated with various inflammatory and autoimmune diseases. Elevated TNF-alpha levels in peritoneal fluid have been reported in women with endometriosis, suggesting that TNF-alpha may be involved in the development of endometriosis. In this study, we investigated the possible association between endometriosis and the TNF-alpha gene promoter polymorphisms -238G/A, -308G/A, -857C/T, -863C/A and -1031T/C in a Japanese population. METHODS: We compared the distribution of the -238G/A, -308G/A, -857C/T, -863C/A and -1031T/C polymorphisms in the promoter region of TNF-alpha in 130 endometriosis cases and 185 controls using PCR-RFLP analysis. RESULTS: The allele frequencies of -238A, -308A, -857T, -863A and -1031C in controls were 2.0%, 1.3%, 19.4%, 17.0% and 18.6%, and in the cases 1.1%, 0.3%, 19.6%, 18.6% and 13.6%, respectively. No significant differences in frequencies were found between the crude endometriosis cases and controls. However, when the endometriosis group was divided into a subgroup of women with stage IV disease only, the frequency of the -1031C allele was significantly lower in this subgroup than controls. CONCLUSIONS: The variability of the -1031T/C polymorphism of the TNF-alpha gene may be associated with susceptibility to (AUTHOR: as meant?) endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Asian People Endometriosis Polymorphism, Genetic Promoter Regions, Genetic Tumor Necrosis Factor-alpha Asian People Case-Control Studies Endometriosis Female Gene Frequency Genetic Predisposition to Disease Genetics, Population Humans Infant, Newborn Japan Pregnancy Promoter Regions, Genetic Tumor Necrosis Factor-alpha

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