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

Asghar T, Tasneem Asghar, Shigeki Yoshida, Yoshida S, Stephen Kennedy, Kennedy S, Negoro K, Kenichi Negoro, Zhuo Wang, Wang Zhuo, Zhuo W, Shinya Hamana, Hamana S, Satoru Motoyama, Motoyama S, Satoshi Nakago, Nakago S, David Barlow, Barlow D, David H. Barlow, Takeshi Maruo, Maruo T
Human Reproduction · 2004 · vol. 19(11) , pp. 2509–2514 · doi:10.1093/humrep/deh478 · PMID:15319381 · W2083096151
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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 Polymorphism, Genetic Promoter Regions, Genetic Tumor Necrosis Factor-alpha Asian People Asian People Case-Control Studies Case-Control Studies Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Genetic Predisposition to Disease Genetic Predisposition to Disease Genetics, Population Genetics, Population

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