01748nas a2200325   4500000000100000008004100001260001600042653001200058653002500070653003800095653001300133653001100146653001200157653001500169653003600184653002500220100001600245700001300261700001300274700001200287700001700299700001600316700001200332245010700344856010900451300001100560490000800571520082900579022001401408       2009                            d  c2009 Jun 1510aAlleles10aCase-Control Studies10aGenetic Predisposition to Disease10agenotype10aHumans10aleprosy10aOdds Ratio10aPolymorphism, Single Nucleotide10aToll-Like Receptor 11 aSchuring RP1 aHamann L1 aFaber WR1 aPahan D1 aRichardus JH1 aSchumann RR1 aOskam L00aPolymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions.  uhttp://jid.oxfordjournals.org/content/199/12/1816.full.pdf+html?sid=47cedf8c-bfc3-4c96-b6d6-1d4d56c1dec5  a1816-90 v1993 a<p>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.</p>  a0022-1899