A Functional Polymorphism of the NFKB1 Promoter Is Not Associated with Ulcerative Colitis in a Spanish Population

Oliver, Javier; Gómez‐García, María; Paco, Laura; López–Nevot, Miguel A.; Piñero, A.; Correro, Francisco; Martín, Leopoldo; Brieva, José A.; Nieto, Antonio; Martı́n, Javier

doi:10.1097/01.mib.0000161916.20007.76

Cited by 38 publications

(33 citation statements)

References 15 publications

(38 reference statements)

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“…For instance, previous studies demonstrated an association of the deletion allele with ulcerative colitis (Borm et al, 2005), but others have not identified this polymorphism as a predisposing factor to this inflammatory intestinal disorder (Fyhn, 1988;Oliver et al, 2005). The discrepancy between studies could be the result of regional and ethnic differences in genotypes, and the sample size included in these studies.…”

Section: Discussionmentioning

confidence: 94%

Roles of functional NFKB1 and βTrCP insertion/deletion polymorphisms in mRNA expression and epithelial ovarian cancer susceptibility

Huo

Zhong²,

Zhu³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Epithelial ovarian cancer (EOC) is the leading cause of death among all gynecological cancers. Nuclear factor-kappa B (NF-κB) is involved in carcinogenesis and in the development of EOC. The β-transducin repeat-containing protein (β-TrCP) is a positive regulator of the NF-κB signaling pathway. Recent studies have indicated that the -94 ins/del ATTG polymorphism in the promoter region of the NFKB1 gene, and the 9N ins/del polymorphism in the 3ꞌ-untranslated region of the β-TrCP gene are associated with increased susceptibility to a variety of cancers. We examined a potential association between these two polymorphisms and EOC. Genotypes were determined for 187 patients with EOC and 221 healthy control subjects, using the MassARRAY system. We found a significant association between the -94 ins/del ATTG genotype distribution and EOC. The frequency of the -94 del ATTG allele was significantly lower in EOC patients compared to healthy controls. The NF-κB mRNA level in cancer tissue was significantly correlated with -94 ins/del ATTG genotypes. Compared to the ATTG 1 /ATTG 1 phenotype, the NF-κB mRNA level was 2.089 and 1.257 times higher in the ATTG 2 (insertion)/ATTG 2 homozygote and the ATTG 1 (deletion)/ATTG 2 heterozygote, respectively. However, we found no evidence of association between the 9N ins/del polymorphism of the β-TrCP gene and EOC in this Chinese population. Based on these results, we suggest that the NF-κB -94 ins/del ATTG polymorphism is a risk factor for EOC susceptibility.

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Section: Discussionmentioning

confidence: 94%

Roles of functional NFKB1 and βTrCP insertion/deletion polymorphisms in mRNA expression and epithelial ovarian cancer susceptibility

Huo

Zhong²,

Zhu³

et al. 2013

Genet. Mol. Res.

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“…12 However, the association of À94ins/del ATTG polymorphism with susceptibility to or phenotype of UC could not be replicated in German, UK and Spanish populations. [13][14][15] The discrepancies between these studies may be explained by differences in environmental factors for UC in different populations and/or differences in the haplotypic context of the À94 del ATTG variant among the studied populations.…”

Section: Nfkb1 Promoter Polymorphism In Graves' Disease a Kurylowicz mentioning

confidence: 97%

Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

et al. 2007

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Recently, a functional polymorphism in the NFKB1 gene promoter (À94ins/del ATTG) has been identified and associated with chronic inflammatory diseases. The aim of this study was to analyze the association of NFKB1 polymorphism with susceptibility to and phenotype of Graves' disease (GD). The initial case-control association study, performed in a Polish-Warsaw cohort (388 GD patients and 688 controls), was followed by the two replication studies performed in Polish-Gliwice and JapaneseKurume cohorts (198 GD patients and 194 controls, and 424 GD patients and 222 controls, respectively). The frequency of the À94del ATTG (D) allele was increased in GD compared to controls in Warsaw cohort. This finding was replicated in Gliwice cohort. Combining both Polish-Caucasian cohorts showed that the NFKB1 polymorphism was significantly associated with susceptibility to GD with a codominant mode of inheritance (P ¼ 0.00005; OR ¼ 1.37 (1.18-1.60)). No association with GD was found in Japanese cohort. However, subgroup analysis in Japanese GD patients revealed a correlation between the NFKB1genotype and the development of ophthalmopathy (P ¼ 0.009; OR ¼ 1.49 (1.10-2.01)), and the age of disease onset (P ¼ 0.009; OR ¼ 1.45 (1.09-1.91)). Our results suggest that NFKB1 À94ins/del ATTG polymorphism may be associated with susceptibility to and/or phenotype of GD.

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“…Present approaches have not been able to discern whether these other genes or the class Ⅱ genes are the true risk genes in the HLA locus. [79][80][81][82] , multiple polymorphisms in the MDR1/ABCB1 gene on chromosome 7q [83][84][85][86][87][88][89][90][91][92] , and polymorphisms in the DLG5 gene on chromosome 10q [70,[93][94][95][96][97][98][99][100][101][102] . (See section C.4.1.)…”

Section: Hla Associationsmentioning

confidence: 99%

Inflammatory bowel disease: Genetic and epidemiologic considerations

Cho

2008

WJG

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Genome-wide association studies have firmly established that many genomic loci contribute to inflammatory bowel disease, especially in Crohn's disease. These studies have newly-established the importance of the interleukin 23 and autophagy pathways in disease pathogenesis. Future challenges include: (1) the establishment of precisely causal alleles, (2) definition of altered functional outcomes of associated and causal alleles and (3) integration of genetic findings with environmental factors.

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A Functional Polymorphism of the NFKB1 Promoter Is Not Associated with Ulcerative Colitis in a Spanish Population

Abstract: These results suggest that the NFKB1 -94ins/delATTG gene variation, previously associated with UC susceptibility in North Americans, does not influence either susceptibility or phenotype of UC in the Spanish population.

Cited by 38 publications

References 15 publications

Roles of functional NFKB1 and βTrCP insertion/deletion polymorphisms in mRNA expression and epithelial ovarian cancer susceptibility

Roles of functional NFKB1 and βTrCP insertion/deletion polymorphisms in mRNA expression and epithelial ovarian cancer susceptibility

Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease

Inflammatory bowel disease: Genetic and epidemiologic considerations

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