NFKB1, nuclear factor kappa B subunit 1, 4790

N. diseases: 551; N. variants: 52
Disease: Crohn Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 GeneticVariation disease BEFREE For example, we characterized that the Crohn's disease risk variant for rs3810936 increases NFKB1 binding and results in altered gene expression. 30254052 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 GeneticVariation disease GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 Biomarker disease BEFREE TNFSF15 and ICOSLG-CXCR5 might constitute a shared pathogenic pathway in the development of PBC and CD in the Japanese population, whereas IL12B-STAT4-NFKB1 might constitute an opposite pathogenic pathway, reflecting the different balance between Th1 and Th17 in the two diseases. 26084578 2015
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 GeneticVariation disease BEFREE The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC. 24971461 2014
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 GeneticVariation disease BEFREE This meta-analysis indicated that the NF-κB1 -94ins/delATTG promoter polymorphism is a risk factor for UC but not CD. 22828805 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 GeneticVariation disease BEFREE In previous studies the NFKBIA 3'UTR (untranslated region) AA genotype was associated with Crohn's disease (CD), while the NFKB1-94ins/delATTG mutation increased the risk for ulcerative colitis (UC). 18716880 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 Biomarker disease BEFREE Linkage of Crohn's disease-related serological phenotypes: NFKB1 haplotypes are associated with anti-CBir1 and ASCA, and show reduced NF-kappaB activation. 18832525 2009
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 GeneticVariation disease BEFREE Polymorphisms of 3 candidate genes (PTPN22, NFkB1, and FcGRIIIA) were investigated in 649 IBD patients (343 with Crohn's disease [CD] and 306 with ulcerative colitis [UC]), 176 unaffected relatives, and 256 healthy controls. 17600378 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 GeneticVariation disease BEFREE In addition, no significant interactions between the -94ins/delATTG NFKB1 polymorphism and polymorphisms within the IKBL and the IL-1RN genes, respectively, were found in CD or UC. 16804398 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 Biomarker disease BEFREE Proteasome-mediated degradation of IkappaBalpha and processing of p105 in Crohn disease and ulcerative colitis. 17124531 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 Biomarker disease BEFREE These observations suggest that the NOD2 gene product confers susceptibility to Crohn's disease by altering the recognition of these components and/or by over-activating NF-kB in monocytes, thus documenting a molecular model for the pathogenic mechanism of Crohn's disease that can now be further investigated. 11385576 2001
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.200 AlteredExpression disease BEFREE Western blot studies showed an increased expression of the p50 and c-rel subunits of NF-kappa B; however, the most striking finding was an increased expression level of NF-kappa B p65 in patients with CD and UC. 9928378 1998