rs3775291, TLR3

N. diseases: 51
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.060 GeneticVariation BEFREE Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD in one group (P = 0.01 and P = 0.02, respectively) before correction for multiple testing. 18385087 2008
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.060 GeneticVariation BEFREE We tested for an association between the functional toll-like receptor 3 gene (TLR3) variant rs3775291 (involving the substitution of phenylalanine for leucine at amino acid 412) and age-related macular degeneration in Americans of European descent. 18753640 2008
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
0.030 GeneticVariation BEFREE The Phe variant (encoded by the T allele at rs3775291) was associated with protection against geographic atrophy (P=0.005). 18753640 2008
Subacute Sclerosing Panencephalitis
CUI: C0038522
Disease: Subacute Sclerosing Panencephalitis
0.010 GeneticVariation BEFREE The frequency of 412Phe allele of TLR3 rs3775291 in SSPE patients was significantly higher than that in controls (P=.03). 19016379 2008
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.070 GeneticVariation BEFREE This study analyzed epidemiological and clinical data from a total of 137 patients with chronic HCV infection with regard to two polymorphic positions within the TLR3 gene: rs5743305 (T/A) is located within the promoter region and might affect transcriptional activity, rs3775291 (C/T) is a non-synonymous single nucleotide polymorphism (SNP) located within exon 4 and the variant receptor has been shown to be functionally impaired. 19475618 2009
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.060 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
0.060 GeneticVariation BEFREE A single-nucleotide polymorphism (SNP; rs3775291) in the Toll-like receptor 3 (TLR3) gene has recently been implicated in the pathogenesis of AMD in Caucasian populations. 21079408 2011
Geographic Atrophy
CUI: C1536085
Disease: Geographic Atrophy
0.030 GeneticVariation BEFREE Toll-like receptor 3 C1234T may protect against geographic atrophy through decreased dsRNA binding capacity. 21712495 2011
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE More importantly, among 582 followed up patients the SNP rs3775291 in the toll-like receptor 3 (TLR-3) gene was associated with CRC specific survival (150 events). 21239167 2011
Polypoidal choroidal vasculopathy
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
0.010 GeneticVariation BEFREE This study indicates that the TLR3 rs3775291 gene polymorphism is not associated with CNV and PCV in Singaporean Chinese patients. 21079408 2011
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.070 GeneticVariation BEFREE We genotyped rs3775291 in a population of Spanish HIV-1-exposed seronegative (HESN) individuals who remain HIV seronegative despite repeated exposure through i.v. injection drug use (IDU-HESN individuals) as witnessed by their hepatitis C virus seropositivity. 22174453 2012
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.010 GeneticVariation BEFREE We have shown here aberrant biological responses mediated by the TLR3 variant receptor, L412F, which may explain in part susceptibility of patients to chronic candidiasis, viral infections and autoimmunity. 22024499 2012
Bacterial Infections
CUI: C0004623
Disease: Bacterial Infections
0.010 GeneticVariation BEFREE Recently we have shown an association of a TLR3 receptor variant, L412F, to susceptibility to chronic candidiasis, recurrent viral and bacterial infections and autoimmunity. 22024499 2012
Bronchiolitis
CUI: C0006271
Disease: Bronchiolitis
0.010 GeneticVariation BEFREE Preliminary evidence was found that TLR3 L412F gene polymorphism may be associated with bronchiolitis leading to hospitalization and postbronchiolitis wheezing. 22549436 2012
Cutaneous Candidiasis
CUI: C0006846
Disease: Cutaneous Candidiasis
0.010 GeneticVariation BEFREE The biological significance of TLR3 variant, L412F, in conferring susceptibility to cutaneous candidiasis, CMV and autoimmunity. 22024499 2012
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic models and four of them were remained in the final predictive model after multivariate stepwise Cox regression, including IL-5R rs11713419 (5'-untranslated region, 5'-UTR) (P = 0.001), IL23R rs6682925 (5'-flanking region, 5'-FR) (P = 0.017), TLR1 rs5743551 (5'-FR) (P = 0.02) and TLR3 rs3775291 (Leu412Phe) (P = 0.01). 21412764 2012
Herpes Labialis
CUI: C0019345
Disease: Herpes Labialis
0.010 GeneticVariation BEFREE Furthermore, the TLR3 L412F genetic polymorphism was found to reduce NK cell TLR3-responsiveness and is associated with susceptibility to recurrent HL. 22537752 2012
Virus Diseases
CUI: C0042769
Disease: Virus Diseases
0.010 GeneticVariation BEFREE Genetic association studies have provided evidence concerning the role of a polymorphism in TLR3 (rs3775291, Leu412Phe) in viral infection susceptibility. 22174453 2012
Wheezing
CUI: C0043144
Disease: Wheezing
0.010 GeneticVariation BEFREE Preliminary evidence was found that TLR3 L412F gene polymorphism may be associated with bronchiolitis leading to hospitalization and postbronchiolitis wheezing. 22549436 2012
Drug usage
CUI: C0242510
Disease: Drug usage
0.010 GeneticVariation BEFREE We genotyped rs3775291 in a population of Spanish HIV-1-exposed seronegative (HESN) individuals who remain HIV seronegative despite repeated exposure through i.v. injection drug use (IDU-HESN individuals) as witnessed by their hepatitis C virus seropositivity. 22174453 2012
Chronic candidiasis
CUI: C0857069
Disease: Chronic candidiasis
0.010 GeneticVariation BEFREE We have shown here aberrant biological responses mediated by the TLR3 variant receptor, L412F, which may explain in part susceptibility of patients to chronic candidiasis, viral infections and autoimmunity. 22024499 2012
Recurrent herpes simplex labialis
CUI: C1274321
Disease: Recurrent herpes simplex labialis
0.010 GeneticVariation BEFREE Association of TLR3-hyporesponsiveness and functional TLR3 L412F polymorphism with recurrent herpes labialis. 22537752 2012
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.070 GeneticVariation BEFREE TLR3 L412F is significantly common in HCV-infected liver recipients, and may be associated with worse outcomes. 23240626 2013
Tick-Borne Encephalitis
CUI: C0014061
Disease: Tick-Borne Encephalitis
0.020 GeneticVariation BEFREE These results indicate that the G allele (within the G/G homozygous genotype) of the TLR3 rs3775291 SNP is associated with predisposition to TBE in the Russian population. 23721942 2013
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.020 GeneticVariation BEFREE These results indicate that TLR3 C1234T polymorphism could be a risk factor for the development of chronic HBV infection, especially the CHB-related ACLF. 23076446 2013