A Functional Promoter Polymorphism in NFKB1 Increases Susceptibility to Endometriosis

作者：Zhou, Bin; Rao, Li; Peng, Ying; Wang, Yanyun; Qie, Mingrong; Zhang, Zhu; Song, Yaping; Zhang, Lin^*

来源：DNA and Cell Biology, 2010, 29(5): 235-239.

DOI：10.1089/dna.2009.0992

• FACTOR-KAPPA-B
• MESSENGER-RNA EXPRESSION
• NECROSIS-FACTOR-ALPHA
• EUTOPIC ENDOMETRIUM
• GENE-EXPRESSION
• TUMOR
• WOMEN
• PROLIFERATION
• INFLAMMATION
• ACTIVATION

Numerous proinflammatory cytokines, such as TNF alpha and IL-6, which are nuclear factor kappa B (NF-kappa B) target genes, have been shown to promote proliferation in endometriotic cells, and several other genes involved in promoting growth are also NF-kappa B 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 kappa B 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.

• 出版日期2010-5
• 单位四川大学