rs4986790, TLR4

N. diseases: 223
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AA amyloidosis
CUI: C3536715
Disease: AA amyloidosis
0.010 GeneticVariation BEFREE Neither myeloid cell TLR-2 and TLR-4 expressions nor TLR-2 Arg753Gln, TLR-4 Asp299Gly, and Thr399Ile polymorphisms seem to affect the development of secondary amyloidosis in FMF patients in our study population. 20714796 2011
Active tuberculosis
CUI: C0151332
Disease: Active tuberculosis
0.020 GeneticVariation BEFREE The TLR4 ASP299GLY polymorphism is a risk factor for active tuberculosis in Caucasian HIV-infected patients. 20226000 2010
Active tuberculosis
CUI: C0151332
Disease: Active tuberculosis
0.020 GeneticVariation BEFREE We found a greater risk of developing active tuberculosis as well as a reduction in CD4 T-cell counts in patients with the Asp299Gly TLR4 polymorphism. 17545720 2007
Acute bronchiolitis
CUI: C0001311
Disease: Acute bronchiolitis
0.010 GeneticVariation BEFREE We found no association between TLR4 polymorphisms (Asp299Gly and Thr399Ile) and the development of acute bronchiolitis. 25572736 2015
Acute Coronary Syndrome
CUI: C0948089
Disease: Acute Coronary Syndrome
0.010 GeneticVariation BEFREE These results, which must be confirmed by a prospective longitudinal study, provide evidence of an association between the Asp299Gly polymorphism of the human TLR4 receptor and acute coronary syndromes. 14563652 2003
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
0.010 GeneticVariation BEFREE We analyzed 154 patients after allogeneic HSCT for acute leukemia for TLR4 gene variants 1063A/G (D299G) and 1363C/T (T399I) with their respective donors, and correlated the results with the incidence of invasive aspergillosis (IA) infection after transplant. 23890253 2013
Acute Motor Axonal Neuropathy
CUI: C3890941
Disease: Acute Motor Axonal Neuropathy
0.010 GeneticVariation BEFREE Besides Asp299Gly, AMAN subtype is also associated with Thr399Ile polymorphism. 19913922 2010
Acute myocardial infarction
CUI: C0155626
Disease: Acute myocardial infarction
0.010 GeneticVariation BEFREE Recently, the common Asp299Gly polymorphism of the Toll-like receptor 4 (TLR-4) was found to be associated with a reduced incidence of acute myocardial infarction and carotid atherosclerosis. 17587646 2007
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
0.030 GeneticVariation BEFREE Toll-like receptor 4 Asp299Gly polymorphism is associated with the infection of pancreatic necrosis in AP. 17414051 2007
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
0.030 GeneticVariation BEFREE In view of the inflammatory nature of acute pancreatitis, we aimed to determine the predictive value of two point mutations in the promoter region at position -550 (H/L variants) and -221 (X/Y variants) of the MBL2 gene, and the Asp299Gly and 119C>A polymorphisms of the TLR4 gene on the occurrence of severe acute pancreatitis (SAP). 18288881 2008
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
0.030 GeneticVariation BEFREE Our current meta-analysis suggests that TLR4 Asp299Gly and Thr399Ile polymorphisms may not be risk factors to AP susceptibility. 24914392 2014
Acute periodontitis
CUI: C0001342
Disease: Acute periodontitis
0.020 GeneticVariation BEFREE One hundred and eleven patients with aggressive periodontitis and 80 periodontally healthy controls were genotyped for four functional variants in the TLR4 gene (c.896A>G and c.1196C>T) and in the IL-18 promoter (c.-368G>C and c.-838C>A). 18983635 2008
Acute periodontitis
CUI: C0001342
Disease: Acute periodontitis
0.020 GeneticVariation BEFREE The aim of the meta-analysis was to evaluate the precise association between five widely-evaluated polymorphisms (CD14 -260C/T (rs2569190), Toll-like receptor (TLR) 2 2408G/A (rs5743708), TLR4 896A/G (rs4986790), TLR4 1196C/T (rs4986791), mannose-binding lectin (MBL) codon 54 (rs1800450)) within the PRRs and susceptibility to either chronic (CP) or aggressive periodontitis (AgP). 26079505 2015
Acute pyelonephritis
CUI: C0520575
Disease: Acute pyelonephritis
0.010 GeneticVariation BEFREE Patients with APN were significantly more likely to have AA genotype of the ICAM-1 rs5498 (1462 A/G) polymorphism (p = 0.04) than children with lower UTIs and the TLR-4 Asp299Gly GG genotype (p = 0.002) and G allele (p = 0.006) than healthy controls. 29028278 2018
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.010 GeneticVariation BEFREE Human colon adenocarcinomas from patients with TLR4-D299G were more frequently of an advanced stage (International Union Against Cancer [UICC] ≥III, 70% vs 46%; P = .0142) with metastasis (UICC IV, 42% vs 19%; P = .0065) than those with wild-type TLR4. 21920464 2011
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.010 GeneticVariation BEFREE No association between ALD and the presence of the Asp299Gly and Thr399Ile polymorphisms in the TLR-4 gene could be documented in our patients. 23009036 2013
Adult Hodgkin Lymphoma
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
0.010 GeneticVariation BEFREE Furthermore, the TLR4 Asp299Gly variant was positively associated with the risk of mucosa-associated lymphoid tissue lymphoma (OR=2.76, 95% CI=1.12-6.81) and HL (OR=1.80, 95% CI=0.99-3.26). 16971956 2006
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE Even with previously verified samples sets and adequate study powers, the results did not confirm the reported associations of TLR3 rs3775291 and TLR4 rs4986790 with AMD in the three independent samples, individually or combined. 19628747 2009
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE Although an intronic SNP in TLR4 was associated marginally with AMD (P = 0.03), it was not possible to replicate a previous association with the rare coding SNP D299G in this gene (P = 0.6). 18385087 2008
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE TLR4-D299G showed an additive effect on AMD risk (odds ratio=4.13, P=0.002) with allelic variants of apolipoprotein E (APOE) and ATP-binding cassette transporter-1 (ABCA1), two genes involved in cholesterol efflux. 15829498 2005
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE Analysis of single nucleotide polymorphisms (SNPs) in the TLR4 gene did not show a significant association between D299G or T399I and AMD, nor did haplotypes containing these variants. 18172114 2008
Aggressive Periodontitis
CUI: C0031106
Disease: Aggressive Periodontitis
0.020 GeneticVariation BEFREE One hundred and eleven patients with aggressive periodontitis and 80 periodontally healthy controls were genotyped for four functional variants in the TLR4 gene (c.896A>G and c.1196C>T) and in the IL-18 promoter (c.-368G>C and c.-838C>A). 18983635 2008
Aggressive Periodontitis
CUI: C0031106
Disease: Aggressive Periodontitis
0.020 GeneticVariation BEFREE The aim of the meta-analysis was to evaluate the precise association between five widely-evaluated polymorphisms (CD14 -260C/T (rs2569190), Toll-like receptor (TLR) 2 2408G/A (rs5743708), TLR4 896A/G (rs4986790), TLR4 1196C/T (rs4986791), mannose-binding lectin (MBL) codon 54 (rs1800450)) within the PRRs and susceptibility to either chronic (CP) or aggressive periodontitis (AgP). 26079505 2015
Allergic asthma
CUI: C0155877
Disease: Allergic asthma
0.020 GeneticVariation BEFREE TLR4 Asp299Gly polymorphisms were associated with asthma and with decreased odds of nonatopic asthma compared with atopic asthma in the adult population in Crimea. 31530336 2020
Allergic asthma
CUI: C0155877
Disease: Allergic asthma
0.020 GeneticVariation BEFREE Decreased LPS-induced IL-12(p70) and IL-10 responses were associated with the TLR4 (Asp299Gly) polymorphism and independently with asthma, especially atopic asthma. 15356557 2004