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.
Hum Reprod. 2004 Nov;19(11):2509-14. doi: 10.1093/humrep/deh478. Epub 2004 Aug 19.
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.
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.
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.
The variability of the -1031T/C polymorphism of the TNF-alpha gene may be associated with susceptibility to (AUTHOR: as meant?) endometriosis.
肿瘤坏死因子-α（TNF-α）是一种多功能促炎细胞因子，与多种炎症和自身免疫性疾病相关。有报道称子宫内膜异位症女性的腹水中TNF-α水平升高，提示TNF-α可能参与子宫内膜异位症的发生发展。在本研究中，我们调查了日本人群中子宫内膜异位症与TNF-α基因启动子多态性-238G/A、-308G/A、-857C/T、-863C/A和-1031T/C之间的可能关联。
我们采用PCR-RFLP分析比较了130例子宫内膜异位症患者和185例对照者中TNF-α基因启动子区域-238G/A、-308G/A、-857C/T、-863C/A和-1031T/C多态性的分布。
对照组中-238A、-308A、-857T、-863A和-1031C的等位基因频率分别为2.0%、1.3%、19.4%、17.0%和18.6%，病例组中分别为1.1%、0.3%、19.6%、18.6%和13.6%。子宫内膜异位症患者与对照者的频率差异无统计学意义。然而，当将子宫内膜异位症组仅分为IV期疾病女性亚组时，该亚组中-1031C等位基因的频率显著低于对照组。
TNF-α基因-1031T/C多态性的变异可能与子宫内膜异位症的易感性相关。
