rs4833095, TLR1

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.040 GeneticVariation BEFREE The frequency of haplotype rs4833095-rs5743557-rs5743596-rs5743604 CAAG was significantly higher in the healthy controls (HC) group (p = 0.0009), while frequency of haplotype CGGA was higher in the TB group (p = 0.001). 29454979 2018
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.040 GeneticVariation BEFREE An increased risk of TB was found for individuals with the TLR2 rs3804100 CC and the TLR9 rs352139 GA and GG genotypes, while decreased risk was identified for those with the AG genotype of TLR1 rs4833095. 26430737 2015
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.040 GeneticVariation BEFREE The frequency of <i>TLR1</i> haplotype rs4833095-rs5743604 CG was significantly higher in the LTBI group than in the TB group (P=0.019877). 30963003 2019
Tuberculosis
CUI: C0041296
Disease: Tuberculosis
0.040 GeneticVariation BEFREE There was increased tuberculosis risk associated with the haplotype CAG (rs4833095/rs76600635/rs5743596) [OR (95% CI) = 1.33 (1.07-1.65)] and with haplotype GG (rs56357984/rs5743557) [OR = 1.21 (1.02-1.43)]. 29416723 2018
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
0.020 GeneticVariation BEFREE After Bonferroni correction, the association of the genotypes of rs4833095 and the CT haplotype with IgAN risk remained significant. 21108742 2011
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.020 GeneticVariation BEFREE TLR1 rs4833095 SNP was associated with an increased risk of GC in a European population, while PRKAA1 rs13361707 genetic variant was not linked with GC. 30574617 2018
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE TLR1 rs4833095 SNP was associated with an increased risk of GC in a European population, while PRKAA1 rs13361707 genetic variant was not linked with GC. 30574617 2018
Leprosy
CUI: C0023343
Disease: Leprosy
0.020 GeneticVariation BEFREE Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. 19456232 2009
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.020 GeneticVariation BEFREE We concluded that TLR-1 rs4833095 and TLR10 rs10004195 confer susceptibility to development of gastroduodenal disease, especially GC in H.pylori disease. 26559190 2015
Leprosy
CUI: C0023343
Disease: Leprosy
0.020 GeneticVariation BEFREE Conflicting findings about the association between leprosy and TLR1 variants N248S and I602S have been reported. 23547143 2013
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
0.020 GeneticVariation BEFREE Taken together, these findings suggest that the TLR1 rs4833095 polymorphism may play a role in the development and progression of IgAN. 27806314 2016
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.020 GeneticVariation BEFREE We concluded that TLR-1 rs4833095 and TLR10 rs10004195 confer susceptibility to development of gastroduodenal disease, especially GC in H.pylori disease. 26559190 2015
Invasive aspergillosis
CUI: C0238013
Disease: Invasive aspergillosis
0.010 GeneticVariation BEFREE Analysis of recipient SNP data showed that the presence of TLR1 239G > C (Arg80 > Thr) or the presence of both TLR1 743A > G (Asn248 > Ser) and TLR6 745C > T (Ser249 > Pro) is associated with IA (odds ratio = 1.30, 95% confidence interval = 1.13 to 1.50; P < .001). 16461792 2005
Ankylosing spondylitis
CUI: C0038013
Disease: Ankylosing spondylitis
0.010 GeneticVariation BEFREE After Bonferroni correction the homozygous variant genotype of TLR1 743 T > C (rs4833095) (odds ratios (OR): 2.59, 95% confidence interval (CI): 1.48-4.51, p = 0.04), and TNFRSF1A -609 G > T (rs4149570) (OR: 1.79, 95% CI: 1.31-2.41, p = 0.01) were associated with increased risk of AS and the combined homozygous and heterozygous variant genotypes of TNF -308 G > A (rs1800629) (OR: 0.56, 95% CI: 0.44-0.72, p = 0.0002) were associated with reduced risk of AS. 30208882 2018
Anemia
CUI: C0002871
Disease: Anemia
0.010 GeneticVariation BEFREE Furthermore, the odds of malaria-associated anaemia were more than doubled in TLR-1 S248N heterozygous women (P=0.03) although parasite densities did not differ. 20478407 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE We focussed on three single allelic variants, N248S in TLR1, Q11L in TLR7 and M1V in TLR8 based on the allelic frequencies in both patient and control populations, the predicted impact on protein function and the novelty in RA research. 28495399 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE In this prospective observational study, rs3775291 in TLR3 and rs4833095 in TLR1 were genotyped in 715 patients with primary breast cancer in a Chinese population. 26226228 2015
Candidemia
CUI: C0877445
Disease: Candidemia
0.010 GeneticVariation BEFREE Analyses of TLR SNPs revealed that 3 TLR1 SNPs (R80T, S248N, I602S) were significantly associated with candidemia susceptibility in whites. 22301633 2012
Intestinal metaplasia
CUI: C0334037
Disease: Intestinal metaplasia
0.010 GeneticVariation BEFREE Moreover, subjects carrying TLR1 rs4833095 TT genotype were associated with reduced risks of chronic atrophic gastritis (CAG, OR=0.66; 95%CI: 0.45-0.97) and intestinal metaplasia (IM, OR=0.57; 95%CI: 0.36-0.90). 25687912 2015
Gastritis, Atrophic
CUI: C0017154
Disease: Gastritis, Atrophic
0.010 GeneticVariation BEFREE Moreover, subjects carrying TLR1 rs4833095 TT genotype were associated with reduced risks of chronic atrophic gastritis (CAG, OR=0.66; 95%CI: 0.45-0.97) and intestinal metaplasia (IM, OR=0.57; 95%CI: 0.36-0.90). 25687912 2015
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
0.010 GeneticVariation BEFREE The polymorphisms TLR5 (rs5744174) and IL12B (rs6887695) were associated with risk of CD, and TLR1 (rs4833095) and IL18 (rs187238) were associated with risk of both CD and UC (p<0.05). 26698117 2015
Mycobacterium Infections
CUI: C0026918
Disease: Mycobacterium Infections
0.010 GeneticVariation BEFREE Toll-like receptor 1 N248S single-nucleotide polymorphism is associated with leprosy risk and regulates immune activation during mycobacterial infection. 23547143 2013
Crohn Disease
CUI: C0010346
Disease: Crohn Disease
0.010 GeneticVariation BEFREE The polymorphisms TLR5 (rs5744174) and IL12B (rs6887695) were associated with risk of CD, and TLR1 (rs4833095) and IL18 (rs187238) were associated with risk of both CD and UC (p<0.05). 26698117 2015
Lower respiratory tract infection
CUI: C0149725
Disease: Lower respiratory tract infection
0.010 GeneticVariation BEFREE Our findings reveal that single-nucleotide polymorphisms within toll-interleukin 1 receptor domain-containing adaptor protein (<i>TIRAP</i>) alone or in combination with TLR1 N248S, TLR1 I602S, or TLR6 S249P polymorphisms contributes to various degree of susceptibility to recurrent pneumococcal LRTI in children by modulating the inflammatory response. 30131804 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE Two SNPs in TLR10 [I369L (rs11096955) and N241H (rs11096957)] and 4 SNPs in TLR1 [N248S (rs4833095), S26L (rs5743596), rs5743595 and rs5743551] were associated with a statistically significant reduced risk of prostate cancer of 29-38% (for the homozygous variant genotype). 18752252 2008