rs4986790, TLR4

N. diseases: 223
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. 15194649 2004
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE The TLR4 Asp299Gly polymorphism is a risk factor for CD. 15973118 2005
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. 18680223 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE The meta-analysis showed that TLR4 D299G and T399I confer a significant risk for developing CD and UC in Caucasians. 20093834 2010
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE In a geographic area in Southern Italy with high incidence of CD we investigated IP (lactulose/mannitol testing) together with the three main mutations of the NOD2/CARD15 and the D299G polymorphism of the toll-like receptor (TLR)-4 gene in 23 families of CD patients (patients and first-degree relatives). 16393227 2005
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE 90 patients with CD and 80 healthy individuals are genotyped for the Asp299Gly and Thr399Ile polymorphisms by restriction fragment length polymorphism analysis. 19664207 2009
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE The meta-analysis provides evidence that Asp299Gly is associated with CD and IBD in whites. 17850411 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE The Asp299Gly and Thr399Ile variants do not show an association with CD, UC, or IBD as a group, indicating that these polymorphisms are likely not the causal ones. 15905704 2005
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. 29055077 2017
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE In this two-center, retrospective German and Hungarian cohort study, patients with Crohn's disease (CD) (n = 379; German n = 235, Hungarian n = 144) and ulcerative colitis (UC) (n = 263; German n = 145, Hungarian n = 118) and healthy controls (n = 605; German n = 403, Hungarian n = 202) were genotyped for the presence of the CD14 c.1-260C>T promoter variant and the TLR4 c.896A>G (p.D299G) variant by melting curve analysis using fluorescence resonance energy transfer probes. 18174680 2007
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE Novel NOD2 haplotype strengthens the association between TLR4 Asp299gly and Crohn's disease in an Australian population. 18213697 2008
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE TLR4 variant D299G showed significant association, with UC (P=0.009) and CD (P=0.039). 23470644 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE The meta-analysis provides evidence that TLR2 Arg753Gln is not associated with CD and UC susceptibility in Asians; TLR4 Asp299Gly is associated with CD and UC susceptibility in Caucasians, but not Asians. 26023918 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 GeneticVariation BEFREE CD susceptibility polymorphisms ATG16L1 rs2241880, ICAM1 rs5498, IL4 rs2070874, IL17F rs763780, IRGM rs13361189, ITLN1 rs2274910, LRRK2 rs11175593, and TLR4 rs4986790 were genotyped in a Portuguese population (511 CD patients, 626 controls) and assessed for association with CD clinical characteristics. 22573572 2013