PMID- 15319381 OWN - NLM STAT- MEDLINE DCOM- 20050323 LR - 20221207 IS - 0268-1161 (Print) IS - 0268-1161 (Linking) VI - 19 IP - 11 DP - 2004 Nov TI - The tumor necrosis factor-alpha promoter -1031C polymorphism is associated with decreased risk of endometriosis in a Japanese population. PG - 2509-14 AB - 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. FAU - Asghar, Tasneem AU - Asghar T AD - Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, chuo-ku, Kobe, 650-0017, Japan. FAU - Yoshida, Shigeki AU - Yoshida S FAU - Kennedy, Stephen AU - Kennedy S FAU - Negoro, Kenichi AU - Negoro K FAU - Zhuo, Wang AU - Zhuo W FAU - Hamana, Shinya AU - Hamana S FAU - Motoyama, Satoru AU - Motoyama S FAU - Nakago, Satoshi AU - Nakago S FAU - Barlow, David AU - Barlow D FAU - Maruo, Takeshi AU - Maruo T LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20040819 PL - England TA - Hum Reprod JT - Human reproduction (Oxford, England) JID - 8701199 RN - 0 (Tumor Necrosis Factor-alpha) SB - IM MH - Asian People/*genetics MH - Case-Control Studies MH - Endometriosis/*genetics MH - Female MH - Gene Frequency MH - Genetic Predisposition to Disease MH - Genetics, Population MH - Humans MH - Infant, Newborn MH - Japan MH - *Polymorphism, Genetic MH - Pregnancy MH - Promoter Regions, Genetic/*genetics MH - Tumor Necrosis Factor-alpha/*genetics EDAT- 2004/08/21 05:00 MHDA- 2005/03/24 09:00 CRDT- 2004/08/21 05:00 PHST- 2004/08/21 05:00 [pubmed] PHST- 2005/03/24 09:00 [medline] PHST- 2004/08/21 05:00 [entrez] AID - deh478 [pii] AID - 10.1093/humrep/deh478 [doi] PST - ppublish SO - Hum Reprod. 2004 Nov;19(11):2509-14. doi: 10.1093/humrep/deh478. Epub 2004 Aug 19.