rs4986791, TLR4

N. diseases: 182
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.080 GeneticVariation BEFREE The host response to H. pylori has been related to genetic polymorphisms that influence both innate and adaptive immune responses.Our aim was to investigate whether the presence of the TLR4 Asp299Gly, TLR4 Thr399Ile and IL-8-251 A/T polymorphisms had any influence in the development of distal GC in a Mexican population. 17462092 2007
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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.080 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 No association of IBD with the TLR4 SNPs was found in either cohort (allele frequencies: D299G-controls 3.9%, CD 3.7%, UC 3.4%, P > 0.05; T399I-controls 2.9%, CD 3.0%, UC 3.4%, P > 0.05). 18680223 2008
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.080 GeneticVariation BEFREE Our results demonstrated that TLR-4 Thr399Ile polymorphism is linked with an increased susceptibility to gastric cancer. 18826495 2008
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.080 GeneticVariation BEFREE Toll-like receptor 4 (TLR4) Asp299Gly and Thr399Ile polymorphisms were reported to be a risk factor of gastric carcinoma or its precursors in Caucasian and Indian population, but these polymorphisms are absent in Japanese. 19191896 2009
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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.080 GeneticVariation BEFREE TLR4/D299G/T399I polymorphisms were more frequent in duodenal ulcer and showed a trend in gastric cancer, when compared with non-atrophic gastritis. 18755634 2008
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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.080 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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.080 GeneticVariation BEFREE Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be associated with increased risk of Gram-negative bacteremia in sepsis patients and with susceptibility to inflammatory bowel disease. 18034244 2008
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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.080 GeneticVariation BEFREE It seems to be that Asp299Gly and Thr399Ile are related to increased risk of precancerous gastric lesions, and, possibly, gastric cancer. 21081146 2011
Septicemia
CUI: C0036690
Disease: Septicemia
0.070 GeneticVariation BEFREE Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated with a lower risk of ICU-acquired sepsis. 25454804 2015
Septicemia
CUI: C0036690
Disease: Septicemia
0.070 GeneticVariation BEFREE In conclusion, differences in distribution of TLR4 polymorphisms Asp299Gly and Thr399Ile in European populations are most likely due to a combination of population migration events combined with selection due to sepsis. 21968286 2012
Sepsis
CUI: C0243026
Disease: Sepsis
0.070 GeneticVariation BEFREE Furthermore, the cosegregating TLR4 polymorphisms Asp299Gly and Thr399Ile were independent risk factors for the development of both sepsis and pneumonia (OR: 3.55; 95% CI: 1.21-10.4, P=0.021 and OR: 3.57, 95% CI: 1.3-9.86, P=0.014, respectively). 25427560 2015
Septicemia
CUI: C0036690
Disease: Septicemia
0.070 GeneticVariation BEFREE We found no significant association for either the polymorphism rs4986790 or rs4986791 with sepsis susceptibility in total analysis under any genetic models. 27958344 2016
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.070 GeneticVariation BEFREE The aim of this study was to investigate the possible role of polymorphisms of TLR4, Asp299Gly and Thr399Ile and CD14, C-159T and C-550T in the development of RSV bronchiolitis. 25572736 2015
Septicemia
CUI: C0036690
Disease: Septicemia
0.070 GeneticVariation BEFREE Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be associated with increased risk of Gram-negative bacteremia in sepsis patients and with susceptibility to inflammatory bowel disease. 18034244 2008
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.070 GeneticVariation BEFREE TLR4 Asp299Gly and Thr399Ile polymorphisms: no impact on human immune responsiveness to LPS or respiratory syncytial virus. 20711470 2010
Sepsis
CUI: C0243026
Disease: Sepsis
0.070 GeneticVariation BEFREE Interestingly, TLR4-D299G, TLR4-T399I and BAFFR-P21R carriage was associated with a lower risk of ICU-acquired sepsis. 25454804 2015
Septicemia
CUI: C0036690
Disease: Septicemia
0.070 GeneticVariation BEFREE The odds ratio for the association of Asp299Gly polymorphism with sepsis risk was 1.22 (95% CI: 0.90-1.65, P=0.21), and the association of Thr399Ile</span> polymorphism was 1.16 (95%CI: 0.70-1.91, P=0.57). 22537674 2012
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.070 GeneticVariation BEFREE Asp299Gly and Thr399Ile polymorphisms in TLR4 have been associated with a variety of inflammatory and infectious conditions including gastric cancer. 24295404 2014
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.070 GeneticVariation BEFREE The host response to H. pylori has been related to genetic polymorphisms that influence both innate and adaptive immune responses.Our aim was to investigate whether the presence of the TLR4 Asp299Gly, TLR4 Thr399Ile and IL-8-251 A/T polymorphisms had any influence in the development of distal GC in a Mexican population. 17462092 2007
Septicemia
CUI: C0036690
Disease: Septicemia
0.070 GeneticVariation BEFREE Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphism(s) with outcome in an intensive care unit (ICU) population at risk for sepsis. 12404174 2002