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 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 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 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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.800 GeneticVariation BEFREE Using a polymerase chain reaction based restriction fragment length polymorphism, the study genotyped polymorphisms TLR4 Asp299Gly and CD14 C-260T in 114 patients with UC and 160 healthy controls in the Chinese Han population. 16085746 2005
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
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.800 GeneticVariation BEFREE We have reported on a novel association of the TLR4 Asp299Gly polymorphism with both CD and UC. 15194649 2004
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 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 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 Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms do not contribute to disease susceptibility in either AS or ReA. 16567359 2006
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
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
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE Moreover, the TLR4 rs4986790 polymorphism was significantly correlated with the risk of IBD in West Asians, while the TLR9 rs352140 polymorphism was significantly associated with the risk of IBD in Africans. 30617966 2019
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.100 GeneticVariation BEFREE Nine variants on nine genes were rated as presenting strong cumulative epidemiological evidence for a nominally significant association with GC risk, including <i>APE1</i> (rs1760944), <i>DNMT1</i> (rs16999593), <i>ERCC5</i> (rs751402), <i>GSTT1</i> (null/presence), <i>MDM2</i> (rs2278744), <i>PPARG</i> (rs1801282), <i>TLR4</i> (rs4986790), <i>IL-17F</i> (rs763780), and <i>CASP8</i> (rs3834129). 31516756 2019
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Nine variants on nine genes were rated as presenting strong cumulative epidemiological evidence for a nominally significant association with GC risk, including <i>APE1</i> (rs1760944), <i>DNMT1</i> (rs16999593), <i>ERCC5</i> (rs751402), <i>GSTT1</i> (null/presence), <i>MDM2</i> (rs2278744), <i>PPARG</i> (rs1801282), <i>TLR4</i> (rs4986790), <i>IL-17F</i> (rs763780), and <i>CASP8</i> (rs3834129). 31516756 2019
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.100 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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.100 GeneticVariation BEFREE Our overall analyses indicated that TLR4 Asp299Gly polymorphism might contribute to RA pathogenesis. 25499175 2015
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.100 GeneticVariation BEFREE There were no associations of TLR4 rs11536878 and rs4986790 SNPs with RA disease activity progression. 25573402 2015
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE In addition, a statistically significant association between TLR4 Asp299Gly polymorphism and IBD was observed among high quality studies evaluating Caucasians, but not Asians. 26023918 2015