A Functional Promoter Polymorphism in NFKB1 Increases Susceptibility to Endometriosis

Zhou B, Bin Zhou, Rao L, Li Rao, Ying Peng, Peng Y, Wang Y, Yanyun Wang, Qie M, Mingrong Qie, Zhang Z, Zhu Zhang, Song Y, Yaping Song, Lin Zhang, Zhang L
DNA and cell biology · 2010 · vol. 29(5) , pp. 235–239 · doi:10.1089/dna.2009.0992 · PMID:20218898 · W2053547796
article OA: closed CC0 ⤵ 15 in-corpus citations
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A functional polymorphism in the *NFKB1* promoter, the -94 insertion/deletion ATTG, was found at higher frequencies in women with endometriosis compared to controls, suggesting increased susceptibility.

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Abstract

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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease INDEL Mutation NF-kappa B p50 Subunit Promoter Regions, Genetic Adolescent Adult Endometriosis Female Humans Middle Aged NF-kappa B p50 Subunit Polymorphism, Genetic Young Adult

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