Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4986790
rs4986790
CUI: C0025303
Disease: Meningococcal Infections
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

dbSNP: rs4986790
rs4986790
CUI: C0243026
Disease: Sepsis
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

dbSNP: rs4986790
rs4986790
CUI: C0036690
Disease: Septicemia
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

dbSNP: rs4986790
rs4986790
CUI: C0003850
Disease: Arteriosclerosis
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

dbSNP: rs4986790
rs4986790
CUI: C0004153
Disease: Atherosclerosis
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

dbSNP: rs4986791
rs4986791
CUI: C0243026
Disease: Sepsis
Sepsis
0.070 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

dbSNP: rs4986791
rs4986791
CUI: C0036690
Disease: Septicemia
Septicemia
0.070 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

dbSNP: rs4986790
rs4986790
CUI: C0243026
Disease: Sepsis
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

dbSNP: rs4986790
rs4986790
CUI: C0003850
Disease: Arteriosclerosis
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

dbSNP: rs4986790
rs4986790
CUI: C0004153
Disease: Atherosclerosis
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

dbSNP: rs4986790
rs4986790
CUI: C0036690
Disease: Septicemia
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

dbSNP: rs4986790
rs4986790
CUI: C0010068
Disease: Coronary heart 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

dbSNP: rs4986790
rs4986790
CUI: C1956346
Disease: Coronary Artery 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

dbSNP: rs4986790
rs4986790
CUI: C1956346
Disease: Coronary Artery 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

dbSNP: rs4986790
rs4986790
CUI: C0010068
Disease: Coronary heart 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

dbSNP: rs4986790
rs4986790
CUI: C0010054
Disease: Coronary Arteriosclerosis
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

dbSNP: rs4986790
rs4986790
CUI: C0010054
Disease: Coronary Arteriosclerosis
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

dbSNP: rs4986790
rs4986790
CUI: C0577631
Disease: Carotid Atherosclerosis
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

dbSNP: rs4986790
rs4986790
CUI: C0026769
Disease: Multiple Sclerosis
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

dbSNP: rs4986791
rs4986791
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Two polymorphisms of the TLR4 gene (Asp299Gly and Thr399Ile) were determined in 655 men with angiographically documented coronary atherosclerosis. 12742999

2003

dbSNP: rs4986791
rs4986791
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 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

dbSNP: rs4986790
rs4986790
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis
0.010 GeneticVariation BEFREE TLR4 Asp299Gly polymorphism is not associated with coronary artery stenosis. 12957699

2003

dbSNP: rs4986790
rs4986790
CUI: C0948089
Disease: Acute Coronary Syndrome
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

dbSNP: rs4986790
rs4986790
CUI: C0010346
Disease: Crohn 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

dbSNP: rs4986790
rs4986790
CUI: C0009324
Disease: Ulcerative Colitis
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