rs5743708

This SNP affects the risk of developing tuberculosis. erj.ersjournals.com 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. Linked to preterm birth rs4696480 (T-16934A and Arg753Gln) and rs5743708) (Thr399Ile) earlier birth for infants carrying (-16934TA/AA and 753ArgGln/GlnGln) Genetic polymorphisms and susceptibility to lung disease. Lemierre's syndrome and genetic polymorphisms: a case report. Linkage between Toll-like receptor (TLR) 2 promotor and intron polymorphisms: functional effects and relevance to sarcoidosis. Genetic variation and haplotype structures of innate immunity genes in eastern India. Toll-like receptor 2 variants are associated with acute reactive arthritis. A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma. No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis. Toll-like receptor polymorphisms and susceptibility to urinary tract infections in adult women. Genetic variation of the human urinary tract innate immune response and asymptomatic bacteriuria in women. Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. Role of polymorphic variants as genetic modulators of infection in neonatal sepsis. Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk. Inflammatory mediators gene polymorphisms in preeclampsia. Toll-like receptor (TLR) 2 promoter and intron 2 polymorphisms are associated with increased risk for spontaneous bacterial peritonitis in liver cirrhosis. The toll-like receptor 2 (TLR2) -196 to -174 del/ins polymorphism affects viral loads and susceptibility to hepatocellular carcinoma in chronic hepatitis C. Further evidence for the relevance of TLR2 gene variants in spontaneous bacterial peritonitis.

A;A

6x increased risk of tuberculosis

A;G

Good news and bad news: this genotype is reported to exhibit lower susceptibility to acquiring Lyme disease, including late-stage Lyme disease, but it is also associated with a 1.6x increased risk for acquiring tuberculosis.