|
Common Variable Immunodeficiency
|
0.560 |
Biomarker
|
disease |
BEFREE |
The prototypic clinical phenotype of NFKB1-deficient patients includes common CVID features, such as hypogammaglobulinaemia and sinopulmonary infections, plus other highly variable individual manifestations.
|
30063981 |
2018 |
|
Common Variable Immunodeficiency
|
0.560 |
Biomarker
|
disease |
BEFREE |
Nuclear factor kappa-light-chain-enhancer of activated B cells 1 (NF-κB1)-related human primary immune deficiencies have initially been characterized as defining a subgroup of common variable immunodeficiencies (CVIDs), representing intrinsic B-cell disorders with antibody deficiency and recurrent infections of various kind.
|
29403474 |
2017 |
|
Common Variable Immunodeficiency
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
Recently, haploinsufficiency of NF-κB1 has been described in three families with common variable immunodeficiency (CVID).
|
27338827 |
2016 |
|
Common Variable Immunodeficiency
|
0.560 |
Biomarker
|
disease |
BEFREE |
NFKB1, a component of the canonical NF-κB pathway, was recently reported to be mutated in a limited number of CVID patients.
|
27923702 |
2017 |
|
Common Variable Immunodeficiency
|
0.560 |
Biomarker
|
disease |
BEFREE |
Given that residual p105 and p50—translated from the non-mutated alleles—were normal, and altered p50 proteins were absent, we conclude that the CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency.
|
26279205 |
2015 |
|
Common Variable Immunodeficiency
|
0.560 |
GeneticVariation
|
disease |
BEFREE |
We show that heterozygous loss-of-function variants in NFKB1 are the most common known monogenic cause of CVID, which results in a temporally progressive defect in the formation of immunoglobulin-producing B cells.
|
29477724 |
2018 |
|
Primary biliary cirrhosis
|
0.420 |
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 |
|
Primary biliary cirrhosis
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals of European descent, three loci (IL7R, IKZF3, and CD80) showed significant associations (combined p = 3.66 × 10(-8), 3.66 × 10(-9), and 3.04 × 10(-9), respectively) and STAT4 and NFKB1 loci showed suggestive association with PBC (combined p = 1.11 × 10(-6) and 1.42 × 10(-7), respectively) in the Japanese population.
|
23000144 |
2012 |
|
Adenocarcinoma
|
0.370 |
AlteredExpression
|
group |
BEFREE |
All cases of adenocarcinoma showed strong expression of both RELA and NFκB-1.
|
26990751 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.370 |
AlteredExpression
|
disease |
BEFREE |
Type 2 diabetes is associated with increased expression of APOE, BAX, MMP1, NFKB1, PDGFB, SPP1, and TGFB2.
|
23337395 |
2014 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.370 |
AlteredExpression
|
disease |
BEFREE |
The T2D enrichment signal was largely due to multiple genes of modest effects (P = 4 × 10(-4), after removing known loci), highlighting new associations for follow-up (ACSL1, NFKB1, SLC2A2, incretin targets).
|
25368101 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The SNPs selected from genes within the canonical NF-κB pathway (including NFKB1, RELA and REL), which played a critical role in innate immune responses were genotyped using pyrosequencing method and analyzed in relation to the risk of development of sepsis and multiple organ dysfunction (MOD) syndrome.
|
25880845 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.370 |
Biomarker
|
disease |
BEFREE |
Three hub genes (IL-6, NFKB1, and PIK3CG) had the highest degree in PPI networks of both peri-implantitis and T2DM.
|
31275749 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
We analyzed SUMO4 M55V and NFKB1-94del/ins variants in 104 patients with type-2 diabetes and 124 healthy controls using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques.
|
25189908 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
We examined the CA repeat polymorphism of the NFKB1 gene (encoding for NFkappaB) and A/G point variation in the 3'UTR region of the nuclear factor kappa B inhibitor alpha (NFKBIA) gene (encoding for IkappaB) in Czech and German patients with type 2 diabetes.
|
17002901 |
2006 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The NFKB1 variants were significantly associated with T2DM: rs7667496 p = 0.01, OR = 1.68; and rs28362491 p = 0.02, OR = 1.67.
|
29601852 |
2018 |
|
Alcoholic Intoxication, Chronic
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We found an association between the presence of the deletion allele in NFKB1 polymorphism and ALC in patients with alcohol dependence.
|
19673747 |
2009 |
|
Alcoholic Intoxication, Chronic
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
Alterations in expression of p50 homodimer/NF-kappaB regulated genes may contribute to neuroplastic adaptation underlying alcoholism.
|
17895971 |
2007 |
|
Alcoholic Intoxication, Chronic
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The present study analyzed potential relationships between alcoholism or alcoholic liver disease (ALD) and IL12B 2124 G>T (rs1368439), IL16 5000 C>T (rs1131445), IL1R1 3114 C>T (rs3917328), and NFKB1 3400 A>G (rs4648143) polymorphisms.
|
29566963 |
2018 |
|
Alcoholic Intoxication, Chronic
|
0.350 |
Biomarker
|
disease |
BEFREE |
NF-kappaB regulates many genes relevant to brain function, and its actions can be potentiated by ethanol; thus, NFKB1 is an excellent candidate gene for alcoholism.
|
18079108 |
2008 |
|
Alcoholic Intoxication, Chronic
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms of human NF-κB1 and other innate immune genes contribute to genetic risk for alcoholism.
|
21402143 |
2011 |
|
Liver diseases
|
0.340 |
Biomarker
|
group |
BEFREE |
Hepatic NF-kB-inducing kinase (NIK) suppresses mouse liver regeneration in acute and chronic liver diseases.
|
30070632 |
2018 |
|
Liver diseases
|
0.340 |
GeneticVariation
|
group |
BEFREE |
A total of 258 male alcoholics (161 without liver disease and 97 with ALC) and 101 healthy controls were genotyped for the -94ins/delATTG NFKB1, 3'-UTR+126G>A NFKBIA, and 34C>G PPARG2 polymorphisms.
|
19673747 |
2009 |
|
Liver diseases
|
0.340 |
AlteredExpression
|
group |
BEFREE |
However, M120 V mutation may utilize a different pathway in liver disease progression that involves high expression of NF-κB subunit, p50.
|
29652648 |
2018 |
|
Liver diseases
|
0.340 |
GeneticVariation
|
group |
BEFREE |
In this case-control study, 559 subjects (343 patients with HCV infection including 237 mild chronic hepatitis patients and 106 patients with Advanced Liver Disease (AdLD), 78 individuals who naturally cleared HCV and 138 healthy subjects) were genotyped for the NFκB1 and NFκBIA SNPs using PCR-RFLP.
|
26827631 |
2016 |