肿瘤坏死因子（TNF）-α基因启动子（-1031、-863和-857）及TNF受体2基因多态性在子宫内膜异位症易感性中的遗传贡献。
Genetic contribution of tumor necrosis factor (TNF)-alpha gene promoter (-1031, -863 and -857) and TNF receptor 2 gene polymorphisms in endometriosis susceptibility.
作者信息
Teramoto Mariko, Kitawaki Jo, Koshiba Hisato, Kitaoka Yui, Obayashi Hiroshi, Hasegawa Goji, Nakamura Naoto, Yoshikawa Toshikazu, Matsushita Masaki, Maruya Etsuko, Saji Hiroh, Ohta Mitsuhiro, Honjo Hideo
机构信息
Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
出版信息
Am J Reprod Immunol. 2004 May;51(5):352-7. doi: 10.1111/j.1600-0897.2004.00168.x.
PROBLEM
Tumor necrosis factor (TNF)-alpha is a major cytokine involved in inflammatory and immune function. The aim of this study was to investigate whether polymorphisms at positions -1031, -863 and -857 in the TNF gene promoter region (TNFA) and TNF receptor type 2 gene (TNFR2) are responsible in part for genetic susceptibility to endometriosis.
METHODS OF STUDY
TNFA and TNFR2 polymorphisms were determined in 123 patients with endometriosis and 165 fertile healthy women by the polymerase chain reaction (PCR) - preferential homoduplex formation assay and PCR-restriction fragment length polymorphism, respectively.
RESULTS
The frequency of the TNFA-U01 haplotype was increased significantly in patients with endometriosis compared with controls (P = 0.045, OR = 1.45). The TNFA-U01 haplotype was strongly associated with HLA-B*0702. No difference was found in TNFR2 polymorphism between patients and controls.
CONCLUSION
Our results indicated that TNFA promoter polymorphism was associated with susceptibility to endometriosis. However, this association was not independent of HLA-class I polymorphisms.
问题
肿瘤坏死因子（TNF）-α是一种参与炎症和免疫功能的主要细胞因子。本研究的目的是调查TNF基因启动子区域（TNFA）-1031、-863和-857位点以及肿瘤坏死因子受体2型基因（TNFR2）的多态性是否部分导致子宫内膜异位症的遗传易感性。
研究方法
分别采用聚合酶链反应（PCR）-优先同型双链体形成法和PCR-限制性片段长度多态性分析法，对123例子宫内膜异位症患者和165例有生育能力的健康女性进行TNFA和TNFR2多态性检测。
结果
与对照组相比，子宫内膜异位症患者中TNFA-U01单倍型的频率显著增加（P = 0.045，比值比=1.45）。TNFA-U01单倍型与HLA-B*0702密切相关。患者与对照组在TNFR2多态性方面未发现差异。
结论
我们的结果表明，TNFA启动子多态性与子宫内膜异位症易感性相关。然而，这种关联并非独立于HLA-I类多态性。
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