Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions
| Autor: | Linda Oskam, Jan Hendrik Richardus, Ron P. Schuring, Ralf R. Schumann, David Pahan, William R. Faber, Lutz Hamann |
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| Přispěvatelé: | Dermatology, KIT: Biomedical Research, Public Health |
| Rok vydání: | 2009 |
| Předmět: |
Toll-like receptor
education.field_of_study Innate immune system Genotype Population Disease Biology medicine.disease Polymorphism Single Nucleotide Toll-Like Receptor 1 Infectious Diseases Case-Control Studies Leprosy Immunology medicine Odds Ratio Immunology and Allergy Humans Genetic Predisposition to Disease Receptor education Allele frequency Alleles |
| Zdroj: | Journal of infectious diseases, 199(12), 1816-1819. Oxford University Press Journal of Infectious Diseases, 199(12), 1816-1819. Oxford University Press |
| ISSN: | 0022-1899 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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