rs4986790, TLR4

N. diseases: 223
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Meningococcal Infections
CUI: C0025303
Disease: Meningococcal Infections
0.030 GeneticVariation BEFREE The allele frequency of the Asp299Gly polymorphism was 5.9% among 879 blood donors, 6.5% among 1047 patients with microbiologically proven meningococcal disease, and 4.1% among 86 patients who died of meningococcal disease. 11494169 2001
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.090 GeneticVariation BEFREE The Asp299Gly TLR4 polymorphism, which attenuates receptor signaling and diminishes the inflammatory response to gram-negative pathogens, is associated with a decreased risk of atherosclerosis. 12124407 2002
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.090 GeneticVariation BEFREE The Asp299Gly TLR4 polymorphism, which attenuates receptor signaling and diminishes the inflammatory response to gram-negative pathogens, is associated with a decreased risk of atherosclerosis. 12124407 2002
Septicemia
CUI: C0036690
Disease: Septicemia
0.090 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
Sepsis
CUI: C0243026
Disease: Sepsis
0.090 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
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.020 GeneticVariation BEFREE In this study we determined whether genetic variants of toll-like receptor (TLR) 4, which confer substantial differences in the inflammation elicited by bacterial lipopolysaccharide, are related to the development of MS. We found no differences in the frequencies of the cosegregating TLR4 Asp299Gly and Thr399Ile polymorphisms between Austrian MS patients (11.6%) and age-matched controls (13.7%). 12622779 2003
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.080 GeneticVariation BEFREE Among symptomatic men with documented coronary artery disease, the TLR4 Asp299Gly polymorphism was associated with the risk of cardiovascular events. 12742999 2003
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.080 GeneticVariation BEFREE Among symptomatic men with documented coronary artery disease, the TLR4 Asp299Gly polymorphism was associated with the risk of cardiovascular events. 12742999 2003
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.060 GeneticVariation BEFREE Among symptomatic men with documented coronary artery disease, the TLR4 Asp299Gly polymorphism was associated with the risk of cardiovascular events. 12742999 2003
Sepsis
CUI: C0243026
Disease: Sepsis
0.090 GeneticVariation BEFREE To investigate whether the presence of the TLR4(D299G) mutation may correlate with the development or outcome of sepsis following major visceral surgery the presence of TLR4(D299G) mutation was analysed in 307 Caucasian patients (154 without and 153 with sepsis). 12807489 2003
Septicemia
CUI: C0036690
Disease: Septicemia
0.090 GeneticVariation BEFREE To investigate whether the presence of the TLR4(D299G) mutation may correlate with the development or outcome of sepsis following major visceral surgery the presence of TLR4(D299G) mutation was analysed in 307 Caucasian patients (154 without and 153 with sepsis). 12807489 2003
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.080 GeneticVariation BEFREE The findings of this study do not support the hypothesis that the TLR4 Asp299Gly polymorphism influences predisposition to and progression of coronary artery disease. 12957699 2003
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.080 GeneticVariation BEFREE The findings of this study do not support the hypothesis that the TLR4 Asp299Gly polymorphism influences predisposition to and progression of coronary artery disease. 12957699 2003
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.060 GeneticVariation BEFREE The findings of this study do not support the hypothesis that the TLR4 Asp299Gly polymorphism influences predisposition to and progression of coronary artery disease. 12957699 2003
Carotid Atherosclerosis
CUI: C0577631
Disease: Carotid Atherosclerosis
0.040 GeneticVariation BEFREE The Asp299Gly polymorphism in the toll-like receptor 4 (TLR4) gene reduces responsiveness to lipopolysaccharide and has been associated with reduced incidence and slower progression of carotid atherosclerosis. 12957699 2003
Coronary Stenosis
CUI: C0242231
Disease: Coronary Stenosis
0.010 GeneticVariation BEFREE TLR4 Asp299Gly polymorphism is not associated with coronary artery stenosis. 12957699 2003
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
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.100 GeneticVariation BEFREE We investigated, by using a polymerase chain reaction restriction-fragment length polymorphism method, the possible association between the polymorphisms of TLR2 (Arg677Trp and Arg753Gln) and TLR4 (Asp299Gly and Thr399Ile) genes with the susceptibility or severity of RA and SLE. 14651524 2004
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE We found no statistically significant differences in the TLR4-Asp299Gly and the TLR4-Thr399Ile genotype or allele distribution between SLE patients, RA patients, and control individuals. 14651524 2004
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: 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
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE In type 2 diabetic patients, however, heterozygote carriers of the Asp299Gly and Thr399Ile genotypes had a significantly reduced prevalence of diabetic neuropathy (odds ratio 0.35 [95% CI 0.19-0.61]; P = 0.0002); no association with diabetic nephropathy was found. 14693986 2004
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Our data indicate that Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with reduced prevalence of diabetic neuropathy in type 2, but not in type 1, diabetes. 14693986 2004
Diabetic Neuropathies
CUI: C0011882
Disease: Diabetic Neuropathies
0.010 GeneticVariation BEFREE Our data indicate that Asp299Gly and Thr399Ile genotypes of the TLR4 gene are associated with reduced prevalence of diabetic neuropathy in type 2, but not in type 1, diabetes. 14693986 2004