TLR4, toll like receptor 4, 7099

N. diseases: 1174; N. variants: 54
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE The TLR4 Asp299Gly and Thr399Ile polymorphisms were genotyped and tested for case-control frequency differences in a New Zealand white cohort of 389 Crohn's disease (CD) patients, 405 ulcerative colitis (UC) patients, and 416 population controls. 17850411 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE TLR4 and CD14 variants did not differ between CD and controls. 15190267 2004
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease LHGDN In further exploring the genetic background of these diseases, we investigated the variations in the CARD15/NOD2 gene (Arg702Trp, Gly908Arg and Leu1007fsinsC), and polymorphisms in the TLR4 gene (Asp299Gly and Thr399Ile) as well as in the promoter of the CD14 gene (T/C at position -159) in Greek patients with CD and UC. 15655821 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Furthermore a missense polymorphism in the TLR4 gene has been associated with a number of autoimmune conditions, including Crohn diseases, making TLR4 a viable candidate gene for investigation. 26830904 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE The nucleotide oligomerization domain 2/caspase activating recruitment domain 15 (NOD2/CARD15) gene located at 16q12 is strongly associated with susceptibility to CD in white people but is absent in adult Asian patients, whereas the role of Toll-like receptor 4 (TLR4) polymorphisms has also been reported. 17325555 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Common NOD2/CARD15 and TLR4 Polymorphisms Are Associated with Crohn's Disease Phenotypes in Southeastern Brazilians. 27107867 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Our meta-analysis suggests that TLR4 T399I polymorphism is moderately associated with susceptibility to CD, and more studies are needed to confirm our conclusion. 29421805 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Mutations in the NOD2/caspase recruitment domains 15 (CARD15) and in the Toll-like receptor 4 (TLR4) gene have been associated with increased susceptibility for CD. 16148063 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles were significantly more prevalent in patients with CD as compared to healthy controls or patients with ulcerative colitis. 16010583 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Toll-like receptor (TLR) polymorphisms, and especially TLR-4 Asp299Gly and TLR-4 Thr399Ile, have been linked with Crohn's disease (CD) and to a lesser extent with ulcerative colitis (UC), CD behavior, and compromised seroreactivity to microbial antigens. 22918682 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE D299G and T399I were related to CD only in patients carrying NOD2 variants (NOD2+/TLR4+ haplotype) (p=0.036; OR=1.924), increasing the risk to develop CD when 1007insC and TLR4 variants were both present (OR=4.886). 27290609 2016
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease LHGDN In addition, interaction of TLR4 with the caspase recruitment domain containing protein 15 gene (CARD15) was studied in patients with Crohn's disease (CD). 15905704 2005
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE In conclusion, we propose the absence of NOD2/TLR4 cross-tolerance as a central mechanism for the increased susceptibility to Crohn's disease in individuals with NOD2 mutations. 18028374 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE TLR4 variant D299G showed significant association, with UC (P=0.009) and CD (P=0.039). 23470644 2013
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE To examine whether TLR4 Asp299Gly, CD14-260C/T, TNF-1031T/C, TNF-863C/A, TNF-857C/T, TACE-172C/T, and TACE-154C/A polymorphisms are associated with Crohn disease in the Ashkenazi Jewish population, we analyzed families with at least 1 child with Crohn disease for association with these mutations using a family-based association test (transmission disequilibrium test) for analysis. 18493210 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE This genetic study provides evidence that the three major CARD15/NOD2 variant alleles and the CD14 -159C/T polymorphism are associated with Crohn's disease (CD) susceptibility in the Saudi population; however, there is no evidence that the TLR4 (Thr399Il) or CARD15/NOD2 polymorphisms can be considered risk factors for Crohn's disease. 22605977 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Furthermore, we identified that TLR4 A299G was associated with CD limited to the colon (P = 0.02). 18213697 2008
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 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
0.500 GeneticVariation disease BEFREE Nevertheless, the significance of the TLR4 299G and TLR9-1237C associations with CD worldwide was confirmed by a meta-analysis test using our datasets and datasets from previously published studies. 17914947 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE One non-synonymous SNP in TLR4 and two non-synonymous SNPs in CARD15, previously associated with atherosclerosis and Crohn's disease, respectively, were also studied. 16907704 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE Our genotyping of 1539 cases of IBD and pooled analysis of 4805 cases of IBD validates the published association of a TLR4 allele with risk of IBD (odds ratio (OR): 1.30, 95% confidence interval (CI): 1.15-1.48; P=0.00017) and Crohn's disease (OR: 1.33, 95% CI: 1.16-1.54; P=0.000035) but not ulcerative colitis. 17538633 2007
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE NOD2, CD14 and TLR4 mutations do not influence response to adalimumab in patients with Crohn's disease: a preliminary report. 21039068 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE The meta-analysis showed that TLR4 D299G and T399I confer a significant risk for developing CD and UC in Caucasians. 20093834 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. 15194649 2004
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.500 GeneticVariation disease BEFREE These findings confirm that, in our IBD patients selected from Southern Italy, the NOD2/CARD15, but not TLR4 SNPs, are associated with increased risk of CD. 18680223 2008