Results
| PMID | 20218898 |
| Gene Name | NFKB1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | NFKB1(-94 insertion/deletion ATTG polymorphism) |
| Population size | 571 |
| Population details | 571 (206 women with endometriosis, 365 ethnicity-matched healthy control women) |
| Sex | Female |
| Associated genes | NFKB1 |
| Other associated phenotypes |
Endometriosis |
|
DNA Cell Biol. 2010 May;29(5):235-9. doi: 10.1089/dna.2009.0992. Zhou, Bin| Rao, Li| Peng, Ying| Wang, Yanyun| Qie, Mingrong| Zhang, Zhu| Song, Yaping| Zhang, Lin Laboratory of Molecular Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, P.R. China. 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. Mesh Terms: Adolescent| Adult| Endometriosis/*genetics| Female| *Genetic Predisposition to Disease| Humans| *INDEL Mutation| Middle Aged| NF-kappa B p50 Subunit/*genetics| Polymorphism, Genetic| *Promoter Regions, Genetic| Young Adult|DA 2010/05/21 06:00 |
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