Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4986790
rs4986790
CUI: C0021390
Disease: Inflammatory Bowel Diseases
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

dbSNP: rs4986790
rs4986790
CUI: C0003873
Disease: Rheumatoid Arthritis
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

dbSNP: rs4986790
rs4986790
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.090 GeneticVariation BEFREE The presence of the Asp299Gly allele of the TLR4 gene does not seem to exert a major influence on the progression of atherosclerosis in patients with FH. 14764071

2004

dbSNP: rs4986790
rs4986790
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.090 GeneticVariation BEFREE The association of the TLR4 mutations (Asp299Gly and Thr399Ile) and the CD14/-159 polymorphism were analyzed in 99 infants hospitalized with severe RSV bronchiolitis (group I). 15143473

2004

dbSNP: rs4986790
rs4986790
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.090 GeneticVariation BEFREE The presence of the Asp299Gly allele of the TLR4 gene does not seem to exert a major influence on the progression of atherosclerosis in patients with FH. 14764071

2004

dbSNP: rs4986790
rs4986790
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.090 GeneticVariation BEFREE The prevalence of the Asp299Gly and the Thr399Ile mutant allele was 4.1% (10/244) and 4.5% (11/244) among periodontitis patients. 14738464

2004

dbSNP: rs4986790
rs4986790
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.080 GeneticVariation BEFREE Toll-like receptor 4 gene Asp299Gly polymorphism is associated with reductions in vascular inflammation, angiographic coronary artery disease, and clinical diabetes. 15632890

2004

dbSNP: rs4986790
rs4986790
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.080 GeneticVariation BEFREE The TLR4/Asp299Gly and CD14/C-260T polymorphisms and plasma sCD14 concentrations do not appear as significant predictors of the risk of CHD in healthy individuals. 15367917

2004

dbSNP: rs4986790
rs4986790
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.080 GeneticVariation BEFREE Using TaqMan PCR technology, we determined the prevalence of the Asp299Gly and Thr399Ile polymorphisms in the TLR4 gene, and their association with MI in a study of 1213 survivors of a first MI and 1561 controls from the Stockholm region. 15302104

2004

dbSNP: rs4986790
rs4986790
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.080 GeneticVariation BEFREE Toll-like receptor 4 gene Asp299Gly polymorphism is associated with reductions in vascular inflammation, angiographic coronary artery disease, and clinical diabetes. 15632890

2004

dbSNP: rs4986790
rs4986790
CUI: C0004096
Disease: Asthma
Asthma
0.080 GeneticVariation BEFREE The TLR4 (Asp299Gly) polymorphism was associated with a 4-fold higher prevalence of asthma in school-aged children (adjusted odds ratio 4.5, 95% CI 1.1-17.4) but not to allergic rhinoconjunctivitis. 15356557

2004

dbSNP: rs4986791
rs4986791
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.070 GeneticVariation BEFREE The association of the TLR4 mutations (Asp299Gly and Thr399Ile) and the CD14/-159 polymorphism were analyzed in 99 infants hospitalized with severe RSV bronchiolitis (group I). 15143473

2004

dbSNP: rs4986791
rs4986791
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.060 GeneticVariation BEFREE The prevalence of the Asp299Gly and the Thr399Ile mutant allele was 4.1% (10/244) and 4.5% (11/244) among periodontitis patients. 14738464

2004

dbSNP: rs4986790
rs4986790
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.060 GeneticVariation BEFREE To determine whether TLR4 Asp299Gly influences LPS responses or susceptibility to pulmonary TB in humans in a Gambian population sample. 15525557

2004

dbSNP: rs4986790
rs4986790
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.060 GeneticVariation BEFREE Our data suggest that TLR4 Asp299Gly has no influence on monocyte LPS responses or susceptibility to TB in Gambians and could be an ancient neutral polymorphism. 15525557

2004

dbSNP: rs4986790
rs4986790
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.060 GeneticVariation BEFREE Toll-like receptor 4 gene Asp299Gly polymorphism is associated with reductions in vascular inflammation, angiographic coronary artery disease, and clinical diabetes. 15632890

2004

dbSNP: rs4986791
rs4986791
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

dbSNP: rs4986791
rs4986791
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE We studied the prevalence of two common polymorphisms of the TLR4 gene (Asp299Gly and Thr399Ile) in 3 independent study populations: (1.) in a cross-sectional study including 769 patients either with type 1 or type 2 diabetes mellitus, of whom 56 (7.2%) had a history of cerebral ischemia (study 1), (2.) a case-control study (study 2) including 128 consecutive patients with cerebral ischemia, mean age 60 +/- 10.9 years and 139 control subjects, and (3.) a case-control study (study 3) including 171 young adults aged < 50 years with cerebral ischemia and 204 control individuals. 15258789

2004

dbSNP: rs4986791
rs4986791
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.050 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

dbSNP: rs4986790
rs4986790
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

dbSNP: rs4986791
rs4986791
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 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

dbSNP: rs4986790
rs4986790
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
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

dbSNP: rs4986790
rs4986790
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis
0.040 GeneticVariation BEFREE This implies that the Asp299Gly TLR4-allele might have a protective role in carotid atherosclerosis, but not in cerebral ischemia. 15258789

2004

dbSNP: rs4986790
rs4986790
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.030 GeneticVariation BEFREE Toll-like receptor 4 gene Asp299Gly polymorphism is associated with reductions in vascular inflammation, angiographic coronary artery disease, and clinical diabetes. 15632890

2004

dbSNP: rs4986790
rs4986790
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis
0.030 GeneticVariation BEFREE Each of the TLR4 mutations, either alone or in cosegregation, were associated with severe RSV bronchiolitis: the Asp299Gly and Thr399Ile mutations were significantly overrepresented in group I, compared with groups II and III. 15143473

2004