Hum. Reprod. Advance Access originally published online on August 19, 2004
Human Reproduction 2004 19(11):2509-2514; doi:10.1093/humrep/deh478
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The tumor necrosis factor-
promoter –1031C polymorphism is associated with decreased risk of endometriosis in a Japanese population
1 Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, chuo-ku, Kobe, 650-0017, Japan, 2 Nuffield Department of Obstetrics and Gynecology, University of Oxford, OX3 9DU, UK and 3 Department of Gastroenterology, Tohoku University Graduate School of Medicine, 2-1 Seiryo-Cho, Aoba-ku, Sendai, Miyagi, 980-8575, Japan
4 To whom correspondence should be addressed. Email: maruo{at}kobe-u.ac.jp
BACKGROUND: Tumor necrosis factor-
(TNF-) is a multifunctional proinflammatory cytokine, associated with various inflammatory and autoimmune diseases. Elevated TNF- levels in peritoneal fluid have been reported in women with endometriosis, suggesting that TNF- may be involved in the development of endometriosis. In this study, we investigated the possible association between endometriosis and the TNF- 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- 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- gene may be associated with susceptibility to (AUTHOR: as meant?) endometriosis.
Key words:
endometriosis/gene polymorphism/PCR/restriction fragment length polymorphism/TNF-
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