rs4986790, TLR4

N. diseases: 223
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
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 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
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 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 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
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 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.800 GeneticVariation BEFREE The presence of TLR-4 Asp299Gly and TLR-4 Thr399Ile polymorphisms is related to UC pancolitis, involvement of the colon in CD, and lower ACCA IgA levels. 22918682 2013
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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
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 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 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.800 GeneticVariation BEFREE Overall, no heterozygous or homozygous single nucleotide polymorphism mutations were found in patients with Crohn's disease and ulcerative colitis both in the TLR4 gene Asp299Gly, Thr399Ile and the TLR2 gene Arg677Trp, Arg753Gln in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. 23239925 2012
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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
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 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 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
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 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 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
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 The meta-analysis provides evidence that Asp299Gly is associated with CD and IBD in whites. 17850411 2007
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.800 GeneticVariation 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
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 The TLR4 Asp299Gly polymorphism is a risk factor for CD. 15973118 2005