A functional promoter polymorphism in NFKB1 increases susceptibility to endometriosis.
A functional promoter polymorphism in NFKB1 increases susceptibility to endometriosis.
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DOI：
10.1089/dna.2009.0992
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发表时间：
2010-05
影响因子：
3.1
通讯作者：
Bin Zhou;L. Rao;Ying Peng;Yanyun Wang;M. Qie;Zhu Zhang;Yaping Song;Lin Zhang
中科院分区：
文献类型：
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作者：
Bin Zhou;L. Rao;Ying Peng;Yanyun Wang;M. Qie;Zhu Zhang;Yaping Song;Lin Zhang
许多促炎细胞因子，如TNF α和IL-6，它们是核因子κ B（NF-κ B）靶基因，已被证明可促进肿瘤细胞的增殖，参与促进生长的几种其他基因也是NF-κ B靶基因。本研究旨在探讨核因子κ B基因（NFKB 1）启动子区功能性插入/缺失多态性（-94 insertion/deletion ATTG）与子宫内膜异位症易感性的关系。采用聚合酶链反应-聚丙烯酰胺凝胶电泳法对206例子宫内膜异位症患者和365例正常对照妇女进行NFKB 1 - 94插入/缺失ATTG基因多态性分析。通过DNA测序分析证实了基因分型方法。NFKB 1启动子-94插入/缺失ATTG多态性基因型在病例组和对照组均处于Hardy-Weinberg平衡。子宫内膜异位症组ATTG（2）/ATTG（2）基因型和ATTG（2）等位基因频率显著高于对照组（ATTG（2）/ATTG（2）基因型为59.7%vs37%，OR = 3.069，p < 0.001; 75.2%对59.7%，优势比= 2.049，p < 0.001（ATTG（2）等位基因），表明NFKB 1启动子-94插入/缺失ATTG多态性与子宫内膜异位症相关。本研究提示NFKB 1启动子区-94插入/缺失ATTG多态性与子宫内膜异位症风险增加相关。
Numerous proinflammatory cytokines, such as TNFalpha and IL-6, which are nuclear factor kappaB (NF-kappaB) target genes, have been shown to promote proliferation in endometriotic cells, and several other genes involved in promoting growth are also NF-kappaB target genes. The aim of this study was to investigate whether the functional insertion/deletion polymorphism (-94 insertion/deletion ATTG) in the promoter of nuclear factor kappaB gene (NFKB1) is associated with susceptibility to endometriosis. Polymerase chain reaction-polyacrylamide gel electrophoresis method was used to genotype the NFKB1 -94 insertion/deletion ATTG polymorphism in 206 women with endometriosis and 365 ethnicity-matched healthy control women. The genotyping method was confirmed by the DNA sequencing analysis. Genotype at the -94 insertion/deletion ATTG polymorphism in the NFKB1 promoter was in Hardy-Weinberg equilibrium in either case or control subjects. The frequency of the ATTG(2)/ATTG(2) genotype and ATTG(2) allele in the endometriosis was significantly higher than that of control subjects (59.7% vs. 37%, odds ratio = 3.069, p < 0.001 for ATTG(2)/ATTG(2) genotype; 75.2% vs. 59.7%, odds ratio = 2.049, p < 0.001 for ATTG(2) allele), indicating that the -94 insertion/deletion ATTG polymorphism in the NFKB1 promoter was associated with endometriosis. This study suggests that the functional -94 insertion/deletion ATTG polymorphism in the promoter of NFKB1 is associated with an increased risk for endometriosis.