Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917864
rs121917864
CUI: C1968668
Disease: LEPROSY, SUSCEPTIBILITY TO, 3
LEPROSY, SUSCEPTIBILITY TO, 3
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs5743708
rs5743708
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE (2) In subgroup analysis based on ethnicity, TLR2 Arg753Gln</span> polymorphism elevates the risk of TB in Asian and Caucasian populations, but not in African or mixed populations. 30733958

2019

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE The R753Q TLR2 polymorphism has been associated with increased incidence of tuberculosis and infections with non-tuberculous mycobacteria in human populations, but the mechanisms by which this polymorphism affects TLR2 signaling are unclear. 28442574

2017

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE This case-control study aims to determine the influence of TLR2 (Arg753Gln and Arg677Trp) polymorphisms on the susceptibility to develop pulmonary or peritoneal TB. 28332241

2017

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE We also detected an association of TLR2 gene with tuberculosis (rs5743708; 3.19 [2.03-5.02]). 26524966

2015

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE The rs5743708 gene polymorphism in the TLR2 gene contributes to the risk of tuberculosis disease</span>. 26617949

2015

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE Our meta-analysis provides evidence that the TLR2 gene Arg753Gln polymorphism is a risk factor to TB, especially in Asian populations. 26220088

2015

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE TLR2 rs5743708 subgroup analysis identified the A allele to increase susceptibility to TB in the Asian ethnic group, while conferring protection in the Hispanic group. 26430737

2015

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE The meta-analysis indicated that TLR2 G2258A is associated with increased TB risk, especially in Asians and Europeans. 23691034

2013

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE Our data suggest that the Arg753Gln polymorphism of the TLR-2 gene influences the speed of progression from infection to TB disease in children. 21320563

2011

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and the TLR4 gene (Asp299Gly, Thr399Ile) were investigated in 205 tuberculosis (TB) patients and 203 controls. 20002809

2010

dbSNP: rs5743708
rs5743708
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.100 GeneticVariation BEFREE In conclusion, the present data suggest that the arginine to glutamine substitution at residue 753 polymorphism of the Toll-like receptor 2 gene influences the risk of developing tuberculosis. 14979495

2004

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE (3) Stratified by sample type, TLR2 Arg753Gln polymorphism is associated with increased PTB risk, but not with EPTB. 30733958

2019

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE Genotyping was performed to detect -196 to -174 del polymorphism and G2258A SNP (Arg753Gln, rs5743708) in TLR2 gene and -T1237C (rs5743836) and G2848A (rs352140) SNP in TLR9 gene in patients with pulmonary TB and healthy controls. 29675696

2018

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE There was a significant association between the GA genotype (heterozygous mutant) of TLR2 Arg753Gln polymorphism and the risk of infection with pulmonary TB (p = 0.003, OR = 4.83) and TB peritonitis (p = 0.003, OR = 6.2). 28332241

2017

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE In TLR2, the frequencies of the CC genotype (OR = 2.262; 95% CI: 1.433-3.570) and C allele (OR = 1.566; 95% CI: 1.223-1.900) in single-nucleotide polymorphism (SNP) rs3804100 were significantly higher in the LTBI group than in the HC group, whereas the GA genotype of SNP rs5743708 was associated with PTB (OR = 6.087; 95% CI: 1.687-21.968). 25928077

2015

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE A meta-analysis was conducted to investigate the relationship between TLR2 G2</span>258A and T597C polymorphisms with PTB susceptibility. 24124467

2013

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE We also showed that the frequencies of the heterozygous Arg753Gln genotype and the Gln allele were significantly higher in patients with pulmonary TB alone and in patients with definitive pulmonary plus extrapulmonary TB than in children with LTBI. 21320563

2011

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G/A (Arg753Gln), TLR-4 896A/G (Asp299Gly), TLR-4 1196C/T (Thr399Ile), TLR-6 745C/T (Ser249Pro), TIRAP 975C/T (Ser180Leu) genes and TLR-9 promoter region polymorphisms at positions -1237C/T and -1486C/T are associated with susceptibility or resistance to pulmonary tuberculosis (PTB). 20797905

2010

dbSNP: rs5743708
rs5743708
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.080 GeneticVariation BEFREE The aim of this study was to investigate whether the functional genetic variations at position 1805 G/T in TLR1, 2258 A/G in TLR2, -857 C/T, and -863 A/C in tumor necrosis factor-α (TNF-α), as well as -819 C/T in interleukin-10 (IL-10) confer susceptibility to pulmonary tuberculosis (PTB). 20650298

2010

dbSNP: rs5743708
rs5743708
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.060 GeneticVariation BEFREE Our meta-analysis revealed a novel finding that the heterogeneous "GA" genotype of the TLR2 rs5743708 and "AG" genotype of the TLR4 rs4986790 may be associated with increased susceptibility to atopic dermatitis in Caucasians. 30273064

2019

dbSNP: rs5743708
rs5743708
CUI: C0013595
Disease: Eczema
Eczema
0.060 GeneticVariation BEFREE Our meta-analysis revealed a novel finding that the heterogeneous "GA" genotype of the TLR2 rs5743708 and "AG" genotype of the TLR4 rs4986790 may be associated with increased susceptibility to atopic dermatitis in Caucasians. 30273064

2019

dbSNP: rs5743708
rs5743708
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections
0.060 GeneticVariation BEFREE The TLR2-Arg753Gln SNP was genotyped in 181 patients after bone marrow transplantation: 83 and 98 patients with and without CMV infection, respectively. 31656159

2019

dbSNP: rs5743708
rs5743708
CUI: C0013595
Disease: Eczema
Eczema
0.060 GeneticVariation BEFREE The TLR2 (R753Q and A-16934T) single nucleotide polymorphisms are not associated with atopic dermatitis in a group of Turkish patients. 28443596

2017