Results
| PMID | 15319381 |
| Gene Name | TNF |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | TNF-alpha (-238G/A, -308G/A, -857C/T, -863C/A and -1031T/C) |
| Population size | 315 |
| Population details | 315 (130 endometriosis cases, 185 controls) |
| Sex | Female |
| Associated genes | TNF-alpha |
| Other associated phenotypes |
Endometriosis |
|
Hum Reprod. 2004 Nov;19(11):2509-14. Epub 2004 Aug 19. Asghar, Tasneem| Yoshida, Shigeki| Kennedy, Stephen| Negoro, Kenichi| Zhuo, Wang| Hamana, Shinya| Motoyama, Satoru| Nakago, Satoshi| Barlow, David| Maruo, Takeshi Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, chuo-ku, Kobe, 650-0017, Japan. 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. Mesh Terms: Asian Continental Ancestry Group/*genetics| Case-Control Studies| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genetics, Population| Humans| Infant, Newborn| Japan| *Polymorphism, Genetic| Pregnancy| Prom |
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