Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Peroxynitrite Activates the NLRP3 Inflammasome Cascade in SOD1(G93A) Mouse Model of Amyotrophic Lateral Sclerosis. 28357805

2018

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE The PRR NLRC4, caspase 1 and IL1β were significantly elevated in denervated muscle of SOD1<sup>(G93A)</sup> mice and sALS patients. 29575052

2018

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Neurodegeneration and NLRP3 inflammasome expression in the anterior thalamus of SOD1(G93A) ALS mice. 27880990

2018

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Inflammasome activation was recently shown in the spinal cord of human sporadic ALS patients and in the SOD1(G93A) mouse model for ALS. 27957680

2017

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Here, we show the therapeutic benefits of a modified peptide agonist stearyl-norleucine-VIP (SNV) in a transgenic rat model of amyotrophic lateral sclerosis (mutated superoxide dismutase 1, hSOD1(G93A)). 25311268

2015

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE In this study, we investigated the expression, activation and co-localization of the NLRP3 inflammasome in the spinal cord of male SOD1(G93A) mice carrying a mutant human superoxide dismutase 1 (SOD1) variant and regarded as an animal model for ALS as well as in post-mortem tissue of ALS patients. 26200799

2015

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Erythropoietin modulates the immune-inflammatory response of a SOD1(G93A) transgenic mouse model of amyotrophic lateral sclerosis (ALS). 24820540

2014

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Here, to investigate the role of proliferating cells in motor neuron disease, SOD1(G93A) transgenic mice were treated intracerebroventicularly (i.c.v.) with the anti-mitotic drug cytosine arabinoside (Ara-C).I.c.v. delivery of Ara-C accelerated disease progression in SOD1(G93A) mouse model of ALS. 22523565

2012

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE We show here that the expression of caspase-11 is upregulated in the spinal cord of superoxide dismutase 1 (SOD1) G93A transgenic mice, a mouse model of amyotrophic lateral sclerosis (ALS), before the onset of motor dysfunction and remains at the high levels throughout the course of disease. 12843244

2003

dbSNP: rs1445888481
rs1445888481
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation BEFREE Temporal patterns of cytokine and apoptosis-related gene expression in spinal cords of the G93A-SOD1 mouse model of amyotrophic lateral sclerosis. 12124437

2002

dbSNP: rs16944
rs16944
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.060 GeneticVariation BEFREE We have found a trend toward an association of rs1143627, rs16944, rs1143623 in IL1B gene with the risk of schizophrenia. 28083609

2016

dbSNP: rs16944
rs16944
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.060 GeneticVariation BEFREE Moreover, our meta-analysis results showed no significant association between the common SNV, rs16944, and schizophrenia. 24155145

2014

dbSNP: rs16944
rs16944
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.060 GeneticVariation BEFREE The present study examined the effects of a functional polymorphism at IL1B gene promoter (-511C/T; rs16944) on brain correlates of working memory performance in schizophrenia. 22763186

2012

dbSNP: rs16944
rs16944
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.060 GeneticVariation BEFREE A trend towards association was also found between rs16944 and female patients with schizophrenia (P = 0.032). 21843369

2011

dbSNP: rs16944
rs16944
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.060 GeneticVariation BEFREE The combined allele-wise odds ratio (OR) for schizophrenia of the rs16944 (IL1B gene; T-511C) polymorphism was 0.86 (95% CI: 0.77to 0.96).When applying stratified analysis to this polymorphism, the pooled allele-wise OR was 0.88 (95% CI, 0.79 to 0.97) in 10 population-based studies and 0.85 (95% CI: 0.73 to 0.99) in Caucasian samples. 20347268

2010

dbSNP: rs16944
rs16944
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.060 GeneticVariation BEFREE However, meta-analysis of our data combined with previously published association studies of rs16944 (IL1beta -511) suggests that the C allele confers modest risk for schizophrenia among individuals reporting Caucasian ancestry, but not Asians (Caucasians, n=819 cases, 1292 controls; p=0.0013, OR=1.24, 95% CI 1.09, 1.41). 16905295

2006

dbSNP: rs1143634
rs1143634
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.040 GeneticVariation BEFREE We found that the statistically significant association of IL1A-889C/T (rs1800587), IL1B -31C/T (rs1143627), IL1B -511A/G (rs16944) and IL1B + 3954C/T (rs1143634) gene polymorphisms with increased susceptibility of chronic periodontitis. 30939298

2019

dbSNP: rs1143634
rs1143634
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.040 GeneticVariation BEFREE This meta-analysis in 9376 participants with 54 case/control studies revealed the rs1143634 polymorphism was associated with elevated risk of chronic periodontitis in overall analysis as well as Caucasian and Asian ethnicities and Mixed population. 29783069

2018

dbSNP: rs1143634
rs1143634
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.040 GeneticVariation BEFREE In conclusion, literature review suggests that for IL1B SNP rs1143634, EARR and CP have an opposite genetic profile. 30142580

2018

dbSNP: rs1143634
rs1143634
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.040 GeneticVariation BEFREE Although the present results do not support that IL-1B (rs1143634) SNP could be identified as a risk predictor for CP in the present population, the synergistic interaction of the CT/CC genotypes of NLRP3 (rs4612666) SNP with ageing and/or smoking habit potentially might play a significant role in the pathogenic pathways of periodontal disease. 26854620

2016

dbSNP: rs16944
rs16944
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 GeneticVariation BEFREE We found that the expression level of IL-1B in MS patients increased 3.336 times more than controls in PBMCs but the rs16944 SNP in the promoter region of IL-1B did not affect the expression level of this gene and there was not association of this SNP with MS in the examined population. 24867167

2014

dbSNP: rs16944
rs16944
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 GeneticVariation BEFREE No association was found between the IL-1α -889 (rs1800587), IL-1α +4,845 (rs17561), IL-1β -511 (rs16944), IL-1β +3,953 (rs1143634), IL-1ra variable number tandem repeat (VNTR) polymorphisms and MS risk. 23052182

2013

dbSNP: rs16944
rs16944
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 GeneticVariation BEFREE Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs315952), IL1A 4845G>T (rs17561), L1B-511C>T (rs16944), IL6-174G>C (rs1800795), IL10-1082 A>G (rs 1800896) and TNFα-308G>A (rs1800629) and their impact on multiple sclerosis risk and disease progression in a Polish population were investigated. 21621860

2011

dbSNP: rs16944
rs16944
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 GeneticVariation BEFREE With respect to MS, IL-1 beta (-511 C/T; rs16944), IL-1 beta (+3954 C/T; rs1143634), IL-1 alpha (-889 C/T; rs1800587), IL-1 alpha (+4845 G/T; rs17561), and the variable number of tandem repeats in intron 2 of the IL-1 receptor antagonist (IL-1RN) gene polymorphisms have been studied in different ethnic groups, leading to conflicting results. 20192980

2010

dbSNP: rs1143623
rs1143623
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 GeneticVariation BEFREE Stratified analyses revealed the IL-1B gene rs11</span>43623 and rs1143634 polymorphisms decreased the risk of CR</span>C among females, smokers and drinkers. 30563955

2018