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.
authors.affiliation: Royal Tropical Institute (KIT) Biomedical Research, Department of Dermatology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Ron P
authors.initials: RP
authors.lastname: Schuring
authors.forename: Lutz
authors.initials: L
authors.lastname: Hamann
authors.forename: William R
authors.initials: WR
authors.lastname: Faber
authors.forename: David
authors.initials: D
authors.lastname: Pahan
authors.forename: Jan Hendrik
authors.initials: JH
authors.lastname: Richardus
authors.forename: Ralf R
authors.initials: RR
authors.lastname: Schumann
authors.forename: Linda
authors.initials: L
authors.lastname: Oskam
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007918:Leprosy / Q000235:genetics* / Q000473:pathology; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D051194:Toll-Like Receptor 1 / Q000235:genetics* / Q000378:metabolism*
chemical_list: D051194:Toll-Like Receptor 1