Polymorphism N248S in the Human Toll-Like Receptor 1 Gene Is Related to Leprosy and Leprosy Reactions

RP Schuring; L Hamann; WR Faber; D Pahan; Jan hendrik Richardus; RR Schumann; L Oskam

doi:10.1086/599121

Polymorphism N248S in the Human Toll-Like Receptor 1 Gene Is Related to Leprosy and Leprosy Reactions

RP Schuring, L Hamann, WR Faber, D Pahan, Jan hendrik Richardus, RR Schumann, L Oskam

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Abstract

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.

Original language	Undefined/Unknown
Pages (from-to)	1816-1819
Number of pages	4
Journal	Journal of Infectious Diseases
Volume	199
Issue number	12
DOIs	https://doi.org/10.1086/599121
Publication status	Published - 2009

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EMC NIHES-02-65-01

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10.1086/599121

http://hdl.handle.net/1765/24623

Cite this

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title = "Polymorphism N248S in the Human Toll-Like Receptor 1 Gene Is Related to Leprosy and Leprosy Reactions",

abstract = "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.",

author = "RP Schuring and L Hamann and WR Faber and D Pahan and Richardus, {Jan hendrik} and RR Schumann and L Oskam",

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T1 - Polymorphism N248S in the Human Toll-Like Receptor 1 Gene Is Related to Leprosy and Leprosy Reactions

AU - Schuring, RP

AU - Hamann, L

AU - Faber, WR

AU - Pahan, D

AU - Richardus, Jan hendrik

AU - Schumann, RR

AU - Oskam, L

PY - 2009

Y1 - 2009

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.

AB - 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.

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DO - 10.1086/599121

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VL - 199

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JO - Journal of Infectious Diseases

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