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rs5743708

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome4
Position153705165
GeneTLR2
is asnp
is mentioned by
dbSNPrs5743708
ebirs5743708
HLIrs5743708
Exacrs5743708
Varsomers5743708
Maprs5743708
PheGenIrs5743708
hapmaprs5743708
1000 genomesrs5743708
hgdprs5743708
ensemblrs5743708
gopubmedrs5743708
geneviewrs5743708
scholarrs5743708
googlers5743708
pharmgkbrs5743708
gwascentralrs5743708
openSNPrs5743708
23andMers5743708
23andMe allrs5743708
SNP Nexus

SNPshotrs5743708
SNPdbers5743708
MSV3drs5743708
GWAS Ctlgrs5743708
GMAF0.01194
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.


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
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 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.