@article{8605,
  keywords = {Alleles, Case-Control Studies, Genetic Predisposition to Disease, genotype, Humans, leprosy, Odds Ratio, Polymorphism, Single Nucleotide, Toll-Like Receptor 1},
  author = {Schuring RP and Hamann L and Faber WR and Pahan D and Richardus JH and Schumann RR and Oskam L},
  title = {Polymorphism N248S in the human Toll-like receptor 1 gene is related to leprosy and leprosy reactions.},
  abstract = {<p>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.</p>},
  year = {2009},
  journal = {The Journal of infectious diseases},
  volume = {199},
  pages = {1816-9},
  month = {2009 Jun 15},
  issn = {0022-1899},
  url = {http://jid.oxfordjournals.org/content/199/12/1816.full.pdf+html?sid=47cedf8c-bfc3-4c96-b6d6-1d4d56c1dec5},
  doi = {10.1086/599121},
  language = {eng},
}