NFKB1, nuclear factor kappa B subunit 1, 4790

N. diseases: 551; N. variants: 52
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE Mutations involving the NF-kB pathway and epigenetic regulation were more common in ulcerative colitis-associated CRCs than in sporadic CRCs. 30794281 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease GWASDB Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE Our results provide evidence that NFKB1 polymorphism rs72696119 was significantly associated with the development of UC. 23322997 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233 2012
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. 21245992 2011
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE An insertion/deletion polymorphism (-94ins/delATTG) in the promoter region of the NFKB1 gene correlates to an increased risk of ulcerative colitis, a known risk factor for colorectal cancer, but this polymorphism has not been studied in colorectal cancer patients. 17852842 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 Biomarker disease BEFREE Proteasome-mediated degradation of IkappaBalpha and processing of p105 in Crohn disease and ulcerative colitis. 17124531 2006
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE A functional polymorphism of the NFKB1 promoter is not associated with ulcerative colitis in a Spanish population. 15905705 2005
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE In addition, a polymorphism in the promoter region of the human NFKB1 gene was found to be associated with susceptibility to UC. 16313306 2005
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 GeneticVariation disease BEFREE Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis. 14613970 2004
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.200 Biomarker disease LHGDN [Activation of nuclear factor-kappaB and its relationship with cytokine gene expression in colonic mucosa of ulcerative colitis patients]. 12133438 2002
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
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