Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions

We investigated the association between a polymorphism of a key innate immunity receptor, Toll-like receptor 1 (TLRI) N248S, and susceptibility to leprosy and its clinical presentation. TLR1N248S 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.

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