We investigated the association between a polymorphism of a key innate immunity receptor, Toll-like receptor 1 (TLR1) N248S, and susceptibility to leprosy and its clinical presentation. TLR1 N248S has been shown elsewhere to diminish TLR1 signaling and subsequent leprosy disease. The homozygous genotype SS was more frequent (P=.012) and the heterozygous SN genotype was less frequent (P=.015) in patients with leprosy than in control subjects. Additional observed differences in allelic frequency in patients who experienced reversal reactions and/or erythema nodosum leprosum reactions indicates that altered TLR1 function, or at least a TLR1 N248S-linked trait, may affect the progression from infection to disease as well as the disease course and the risk of debilitating reactional episodes in this population.
BT - The Journal of infectious diseases C1 - http://www.ncbi.nlm.nih.gov/pubmed/19456232?dopt=Abstract DA - 2009 Jun 15 DO - 10.1086/599121 IS - 12 J2 - J. Infect. Dis. LA - eng N2 -We investigated the association between a polymorphism of a key innate immunity receptor, Toll-like receptor 1 (TLR1) N248S, and susceptibility to leprosy and its clinical presentation. TLR1 N248S has been shown elsewhere to diminish TLR1 signaling and subsequent leprosy disease. The homozygous genotype SS was more frequent (P=.012) and the heterozygous SN genotype was less frequent (P=.015) in patients with leprosy than in control subjects. Additional observed differences in allelic frequency in patients who experienced reversal reactions and/or erythema nodosum leprosum reactions indicates that altered TLR1 function, or at least a TLR1 N248S-linked trait, may affect the progression from infection to disease as well as the disease course and the risk of debilitating reactional episodes in this population.
PY - 2009 SP - 1816 EP - 9 T2 - The Journal of infectious diseases TI - Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions. UR - http://jid.oxfordjournals.org/content/199/12/1816.full.pdf+html?sid=47cedf8c-bfc3-4c96-b6d6-1d4d56c1dec5 VL - 199 SN - 0022-1899 ER -