rs4986790, TLR4

N. diseases: 223
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.050 GeneticVariation BEFREE <i>In silico</i> analysis of rs2149356G allele showed that this mutation is siRNA, which targets the set of genes, especially in the autophagy pathway.<b>Conclusion:</b> We demonstrated that rs4986790 and rs2149356 are associated with HCV infection. 30765614 2019
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.090 GeneticVariation BEFREE 1400 participants (mean age: 63 years, 31% female) in the Southampton Atherosclerosis Study were genotyped for the TLR4 Asp299Gly polymorphism using the tetra-primer PCR method. 12957699 2003
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.090 GeneticVariation BEFREE 1400 participants (mean age: 63 years, 31% female) in the Southampton Atherosclerosis Study were genotyped for the TLR4 Asp299Gly polymorphism using the tetra-primer PCR method. 12957699 2003
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.800 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
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with a reduced prevalence of diabetic neuropathy in patients with type 2 diabetes. 14693986 2004
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE Asp299Gly and Thr399Ile polymorphisms in TLR4 have been associated with a variety of inflammatory and infectious conditions including gastric cancer. 24295404 2014
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.100 GeneticVariation BEFREE Asp299Gly and Thr399Ile polymorphisms in TLR4 have been associated with a variety of inflammatory and infectious conditions including gastric cancer. 24295404 2014
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.070 GeneticVariation BEFREE A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). 24446182 2014
Malignant neoplasm of colon and/or rectum
0.050 GeneticVariation BEFREE A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). 24446182 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE A coding variant in the TLR4 receptor (rs4986790), previously associated with longevity and Alzheimer's disease (AD) risk reduction, was examined in a population isolate (Québec Founder Population [QFP]) and in presymptomatic individuals with a parental history of AD (Pre-Symptomatic Evaluation of Novel or Experimental Treatment for Alzheimer's Disease [PREVENT-AD]). 31175027 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.050 GeneticVariation BEFREE A historical cohort of 92 liver transplant patients with chronic HCV were screened for TLR2 Arg753Gln and TLR4 Asp299Gly and Thr399Ile polymorphisms. 17713436 2007
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
0.030 GeneticVariation BEFREE A meta-analysis, comprising 577 GCA patients and 1153 controls, did not confirm an association between GCA and rs4986790 (OR 1.29, 95% CI 0.86, 1.92, p=0.22). 24447403 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.020 GeneticVariation BEFREE A non-significant suggestion of effect modification was observed by rs4986790 carrier status on the association between T. vaginalis serostatus and prostate cancer risk (p interaction = 0.07). 23179660 2013
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE A non-significant suggestion of effect modification was observed by rs4986790 carrier status on the association between T. vaginalis serostatus and prostate cancer risk (p interaction = 0.07). 23179660 2013
Endotoxin Hyporesponsiveness
CUI: C1864267
Disease: Endotoxin Hyporesponsiveness
0.020 GeneticVariation BEFREE A non-synonymous variant in the extracellular domain of TLR4 (G299D) has been shown to interrupt TLR4-mediated signalling, resulting in endotoxin hyporesponsiveness. 18180278 2008
Arthritis
CUI: C0003864
Disease: Arthritis
0.010 GeneticVariation BEFREE A phenotypic correlation of Asp299Gly-AG genotype with arthritis in UC patients was detected (P = 0.003). 29055077 2017
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.080 GeneticVariation BEFREE A polymorphism of the TLR4 gene, Asp299Gly, is associated with an increased risk for coronary heart diseases in Caucasian populations. 15910856 2005
Cystic Echinocccosis
CUI: C4553297
Disease: Cystic Echinocccosis
0.010 GeneticVariation BEFREE A relative genetic variability of TLR4 Asp299Gly was found in RH patients (haplotype diversity: 0.700) compared to AH patients and healthy controls (Hd: 0.000). 29602972 2018
Echinococcosis
CUI: C0013502
Disease: Echinococcosis
0.010 GeneticVariation BEFREE A relative genetic variability of TLR4 Asp299Gly was found in RH patients (haplotype diversity: 0.700) compared to AH patients and healthy controls (Hd: 0.000). 29602972 2018
Bronchopulmonary Aspergillosis
CUI: C2350530
Disease: Bronchopulmonary Aspergillosis
0.010 GeneticVariation BEFREE A significant association was observed between allele G on Asp299Gly (TLR4) and chronic cavitary pulmonary aspergillosis (odds ratio [OR], 3.46; P =.003). 18275280 2008
Pulmonary Aspergillosis
CUI: C2350529
Disease: Pulmonary Aspergillosis
0.010 GeneticVariation BEFREE A significant association was observed between allele G on Asp299Gly (TLR4) and chronic cavitary pulmonary aspergillosis (odds ratio [OR], 3.46; P =.003). 18275280 2008
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.100 GeneticVariation BEFREE A TDT on 318 IBD trios demonstrated preferential transmission of the TLR4 Asp299Gly polymorphism from heterozygous parents to affected children (T/U: 68/34, p = 0.01). 15194649 2004
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
0.060 GeneticVariation BEFREE A Toll-like receptor-4 (TLR-4) Asp299Gly and Thr399Ileu substitution reduces responsiveness to Helicobacter pylori (H. pylori) lipopolysaccharide. 18082569 2007
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE A total of 140 patients with NCC (82 symptomatic [ie, with active epilepsy] and 58 asymptomatic) and 150 healthy control subjects were examined for TLR4 Asp299Gly and Thr399Ile polymorphisms by means of polymerase chain reaction and restriction fragment-length polymorphism. 20807077 2010