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 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 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
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 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
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.760 GeneticVariation BEFREE No significant difference between the frequencies of the Asp299Gly genotype or the Thr399Ile genotype between patients with AS and healthy HLA-B27 controls was found. 16837493 2006
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.760 GeneticVariation BEFREE The aim of this study was to investigate the clinical characteristics and frequency of TLR4 polymorphisms (Asp299Gly and Thr 399Ile) in a cohort of Brazilian patients with AS. 27692393 2018
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.760 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.760 GeneticVariation BEFREE There is no evidence for involvement of the CD14 C-260T or TLR4 A896G polymorphisms in susceptibility to AS. 15647432 2005
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.760 GeneticVariation BEFREE The present study might suggest that TLR4 D299G/T399I polymorphisms are not associated with RA/AS susceptibility. 22717291 2012
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.760 GeneticVariation BEFREE The minor allele frequency for the Asp299Gly variant (G) was significantly higher in AS cases compared to controls (7.5% vs 2.6%, respectively; OR 3.10, p = 0.037). 17143969 2007
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.760 GeneticVariation BEFREE Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA. 16567359 2006
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.710 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.710 GeneticVariation BEFREE Significant association was observed between a missense variant rs4986790 of TLR4 (Asp229Gly) and plaque type psoriasis (p = 2 × 10(-4)) which was also notable in those with psoriatic arthritis (p = 2 × 10(-4)) and early-onset psoriasis (p = 8 × 10(-4)). 26830904 2016
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Cholangitis, Sclerosing
CUI: C0008313
Disease: Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Based on our meta-analysis, the TLR signalling pathway is involved in gastric carcinogenesis, TLR4 Asp299Gly and TLR2 -196 to -174del showing associations with GC in an ethnic-specific manner. 23565226 2013
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.100 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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.100 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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.100 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
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Moreover, in terms of stratified analyses by cancer type for SNP rs4986790, significantly elevated risk was observed to be associated with G allele in gastric cancer and 'other cancers'. 23084080 2013
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE Only the Asp299Gly polymorphism has been consistently genotyped in previous TLR4 studies with IBD patients, therefore other TLR4 variants with stronger associations with IBD may exist. 17850411 2007
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms in gastric cancer of intestinal and diffuse histotypes. 18826495 2008