title: Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy.
abstract: Toll-like receptor 4 (TLR4) is required for efficient recognition of bacterial infections. We investigated an association between 2 TLR4 mutations (Asp(299)Gly and Thr(399)Ile) and meningococcal disease in 197 patients and 214 healthy controls by allele-specific real time polymerase chain reaction and direct sequencing. Although the allele frequency was not higher in the overall patient population, a significantly higher frequency in the 40 patients younger than 12 months of age (P = 0.007) was observed. We conclude that TLR4 mutations represent a risk factor for meningococcal disease in this age group.
authors.affiliation: Children's Hospital, Johannes Gutenberg-University, Mainz, Germany. faber@uni-mainz.de
authors.forename: Joerg
authors.initials: J
authors.lastname: Faber
authors.forename: Claudius U
authors.initials: CU
authors.lastname: Meyer
authors.forename: Christina
authors.initials: C
authors.lastname: Gemmer
authors.forename: Alexandra
authors.initials: A
authors.lastname: Russo
authors.forename: Adam
authors.initials: A
authors.lastname: Finn
authors.forename: Craig
authors.initials: C
authors.lastname: Murdoch
authors.forename: Werner
authors.initials: W
authors.lastname: Zenz
authors.forename: Christine
authors.initials: C
authors.lastname: Mannhalter
authors.forename: Bernhard U
authors.initials: BU
authors.lastname: Zabel
authors.forename: Heinz-J
authors.initials: HJ
authors.lastname: Schmitt
authors.forename: Pirmin
authors.initials: P
authors.lastname: Habermehl
authors.forename: Fred
authors.initials: F
authors.lastname: Zepp
authors.forename: Markus
authors.initials: M
authors.lastname: Knuf
mesh_terms: D000367:Age Factors; D000483:Alleles; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005060:Europe; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008589:Meningococcal Infections / Q000235:genetics* / Q000276:immunology*; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D051197:Toll-Like Receptor 4 / Q000235:genetics*
chemical_list: C495345:TLR4 protein, human; D051197:Toll-Like Receptor 4; D004247:DNA