rs4986791, TLR4

N. diseases: 182
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
0.100 GeneticVariation 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
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.100 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
0.100 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
0.100 GeneticVariation BEFREE Associations between TLR4 Thr399Ile polymorphisms and CD risk were found only in the allele and dominant models. 26023918 2015
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.100 GeneticVariation BEFREE However, meta-analysis demonstrated significantly higher frequencies of both Asp299Gly and Thr399Ile SNPs in IBD and CD and for 399Ileu carriage in UC patients. 25492126 2014
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.100 GeneticVariation BEFREE Two polymorphisms of TLR4 (D299G, T399I) gene were genotyped by PCR-RFLP in 199 UC, 46 Crohn's disease (CD) patients, and 201 healthy controls. 23470644 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.100 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
0.100 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
0.100 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
0.100 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
0.100 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
0.100 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
0.100 GeneticVariation BEFREE The role of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease. 15973118 2005
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.100 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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.080 GeneticVariation BEFREE One SNP (rs4986791 in the TLR-4 locus) and 2 SNPs (rs6785049 in the Pregnane-x-receptor gene and rs10500264 in the SLCA10 gene) were associated with a change in albumin and hemoglobin over time respectively in our IBD cohort. 30423580 2019
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.080 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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.080 GeneticVariation BEFREE The TLR4-Thr399Ile variant was strongly associated with susceptibility to IBD, whereas TLR4-Asp299Gly seems to play a role in the clinical expression of UC. 29055077 2017
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.080 GeneticVariation BEFREE The TLR4 Thr399Ile polymorphism was associated with UC risk in pooled results as well as subgroup analysis of high quality publications assessing Caucasians, in allele and dominant models. 26023918 2015
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.080 GeneticVariation BEFREE TLR4 Thr399Ile may be associated with IBD susceptibility in Caucasians only. 26023918 2015
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.080 GeneticVariation BEFREE Asp299Gly and Thr399Ile polymorphisms in TLR4 have been associated with a variety of inflammatory and infectious conditions including gastric cancer. 24295404 2014
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.080 GeneticVariation BEFREE However, meta-analysis demonstrated significantly higher frequencies of both Asp299Gly and Thr399Ile SNPs in IBD and CD and for 399Ileu carriage in UC patients. 25492126 2014
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.080 GeneticVariation BEFREE T399I showed significant association with UC (P=0.006) but not with CD patients. 23470644 2013
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.080 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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.080 GeneticVariation BEFREE The TLR4 gene Asp299Gly, Thr399Ile and TLR2 gene Arg753Gln, Arg677Trp polymorphisms may not be associated with IBD in the Zhuang population from the Guangxi Zhuang Autonomous Region of China. 23239925 2012
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.080 GeneticVariation BEFREE To investigate toll-like receptor 2 (TLR2) -196 to -174 del, and TLR4 (+896A/G rs4986790 and +1196C/T rs4986791) polymorphisms at risk of chronic gastritis and gastric cancer in a Brazilian population and association of gastric lesions with risk factors such as smoking, alcohol intake and Helicobacter pylori infection. 22468087 2012