rs5743708
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | 6x increased risk of tuberculosis |
| (A;G) | 1.5 | lower risk for Lyme; 1.6x higher risk of tuberculosis |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 153705165 |
| Gene | TLR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5743708 |
| dbSNP (classic) | rs5743708 |
| ClinGen | rs5743708 |
| ebi | rs5743708 |
| HLI | rs5743708 |
| Exac | rs5743708 |
| Gnomad | rs5743708 |
| Varsome | rs5743708 |
| LitVar | rs5743708 |
| Map | rs5743708 |
| PheGenI | rs5743708 |
| Biobank | rs5743708 |
| 1000 genomes | rs5743708 |
| hgdp | rs5743708 |
| ensembl | rs5743708 |
| geneview | rs5743708 |
| scholar | rs5743708 |
| rs5743708 | |
| pharmgkb | rs5743708 |
| gwascentral | rs5743708 |
| openSNP | rs5743708 |
| 23andMe | rs5743708 |
| SNPshot | rs5743708 |
| SNPdbe | rs5743708 |
| MSV3d | rs5743708 |
| GWAS Ctlg | rs5743708 |
| GMAF | 0.01194 |
| Max Magnitude | 3 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
This SNP affects the risk of developing tuberculosis. [1]
The AA genotype was found to be more significantly associated with tuberculosis. Allele frequencies for guanine (G) and A were found to be 0.95 and 0.05 in the control group and 0.86 and 0.14 in the TB patient group, respectively. The risk of developing [tuberculosis] was increased 6.04- and 1.60-fold for carriers of the AA and GA genotypes, respectively.
The variant of rs5743708 known as Arg753Gln or R753Q appears to protect against Lyme disease. [PMID 16081826]
[PMID 17667860] Linked to preterm birth rs4696480 (T-16934A and Arg753Gln) and rs5743708) (Thr399Ile) earlier birth for infants carrying (-16934TA/AA and 753ArgGln/GlnGln)
[PMID 20595247] Polymorphisms of innate pattern recognition receptors, response to interferon-beta and development of neutralizing antibodies in multiple sclerosis patients
[PMID 16608528
] Genetic polymorphisms and susceptibility to lung disease.
[PMID 16846490] Lemierre's syndrome and genetic polymorphisms: a case report.
[PMID 17565608] Linkage between Toll-like receptor (TLR) 2 promotor and intron polymorphisms: functional effects and relevance to sarcoidosis.
[PMID 18396467] Genetic variation and haplotype structures of innate immunity genes in eastern India.
[PMID 18975326] Toll-like receptor 2 variants are associated with acute reactive arthritis.
[PMID 19029192] A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma.
[PMID 19134200] No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis.
[PMID 19543401] Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.
[PMID 20016852] Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 20463618] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.
[PMID 20646321] Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.
[PMID 20818961] Inflammatory mediators gene polymorphisms in preeclampsia.
[PMID 21356257] Toll-like receptor (TLR) 2 promoter and intron 2 polymorphisms are associated with increased risk for spontaneous bacterial peritonitis in liver cirrhosis.
[PMID 21500195] The toll-like receptor 2 (TLR2) -196 to -174 del/ins polymorphism affects viral loads and susceptibility to hepatocellular carcinoma in chronic hepatitis C.
[PMID 22019578] Further evidence for the relevance of TLR2 gene variants in spontaneous bacterial peritonitis.
[PMID 22494793] Innate immunity gene single nucleotide polymorphisms and otitis media
[PMID 23151015] Toll-like receptor 3 gene polymorphisms and severity of pandemic A/H1N1/2009 influenza in otherwise healthy children
[PMID 23289617] Genetic variation of TLR2 and TLR4 among the Saudi Arabian population: insight into the evolutionary dynamics of the Arabian Peninsula.
[PMID 23417289] Coding variants of TLR2 and TLR4 genes do not substantially contribute to prosthetic joint infection.
| ClinVar | |
|---|---|
| Risk | Rs5743708(A;A) |
| Alt | Rs5743708(A;A) |
| Reference | Rs5743708(G;G) |
| Significance | Other |
| Disease | Mycobacterium tuberculosis |
| Variation | info |
| Gene | TLR2 |
| CLNDBN | Mycobacterium tuberculosis, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000004.11:g.154626317G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000033853.4, |
[PMID 25213166] An association between single nucleotide polymorphisms within TLR and TREM-1 genes and infective endocarditis
[PMID 25590839] TLR4 rs1927911, but Not TLR2 rs5743708, Is Associated With Atherosclerotic Cerebral Infarction in the Southern Han Population: A Case-Control Study
[PMID 25928077] Screening toll-like receptor markers to predict latent tuberculosis infection and subsequent tuberculosis disease in a Chinese population
[PMID 26695672] [Association between toll-like receptors 2 and 5 polymorphisms and neonatal sepsis].
[PMID 26963509] Polymorphisms of Dectin-1 and TLR2 Predispose to Invasive Fungal Disease in Patients with Acute Myeloid Leukemia.
[PMID 27155792] TLR2 and TLR4 polymorphisms in Southern Chinese Psoriasis Vulgaris patients.
[PMID 28518213] Relationship between toll-like receptor 2 R753Q and T16934A polymorphisms and Staphylococcus aureus nasal carriage.
[PMID 32421725] Association between single nucleotide polymorphisms (SNPs) of IL1, IL12, IL28 and TLR4 and symptoms of congenital cytomegalovirus infection.
[PMID 32753695] TLR4 896A/G and TLR9 1174G/A polymorphisms are associated with the risk of infectious mononucleosis.
