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From SNPedia

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
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs5743708
1000 genomesrs5743708
GWAS Ctlgrs5743708
Max Magnitude3
? (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 16608528OA-icon.png] Genetic polymorphisms and susceptibility to lung disease.

[PMID 16846490OA-icon.png] Lemierre's syndrome and genetic polymorphisms: a case report.

[PMID 17565608OA-icon.png] Linkage between Toll-like receptor (TLR) 2 promotor and intron polymorphisms: functional effects and relevance to sarcoidosis.

[PMID 18396467OA-icon.png] 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 19029192OA-icon.png] A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma.

[PMID 19134200OA-icon.png] No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis.

[PMID 19543401OA-icon.png] Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women.

[PMID 20016852OA-icon.png] Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women.

[PMID 20196868OA-icon.png] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

[PMID 20463618OA-icon.png] Role of polymorphic variants as genetic modulators of infection in neonatal sepsis.

[PMID 20646321OA-icon.png] 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 23151015OA-icon.png] 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.

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 25590839OA-icon.png] TLR4 rs1927911, but Not TLR2 rs5743708, Is Associated With Atherosclerotic Cerebral Infarction in the Southern Han Population: A Case-Control Study

[PMID 25928077OA-icon.png] 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 26963509OA-icon.png] 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 32421725OA-icon.png] Association between single nucleotide polymorphisms (SNPs) of IL1, IL12, IL28 and TLR4 and symptoms of congenital cytomegalovirus infection.

[PMID 32753695OA-icon.png] TLR4 896A/G and TLR9 1174G/A polymorphisms are associated with the risk of infectious mononucleosis.