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: Ron P Schuring, Lutz Hamann, William R Faber, David Pahan, Jan Hendrik Richardus, Ralf R Schumann, Linda Oskam
• Journal: The Journal of infectious diseases (J Infect Dis) Vol. 199 Issue 12 Pg. 1816-9 (Jun 15 2009) ISSN: 0022-1899 [Print] United States
• PMID: 19456232 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Toll-Like Receptor 1

Topics

• Alleles
• Case-Control Studies
• Genetic Predisposition to Disease
• Genotype
• Humans
• Leprosy (genetics, pathology)
• Odds Ratio
• Polymorphism, Single Nucleotide
• Toll-Like Receptor 1 (genetics, metabolism)