Literature DB >> 11996613

Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock.

Eva Lorenz1, Jean Paul Mira, Kathy L Frees, David A Schwartz.   

Abstract

BACKGROUND: Septic shock remains a significant health concern worldwide, and despite progress in understanding the physiological and molecular basis of septic shock, the high mortality rate of patients with septic shock remains unchanged. We recently identified a common polymorphism in toll-like receptor 4 (TLR4) that is associated with hyporesponsiveness to inhaled endotoxin or lipopolysaccharide in humans.
METHODS: Since TLR4 is a major receptor for lipopolysaccharide in mammals and gram-negative bacteria are the prevalent pathogen associated with septic shock, we investigated whether these specific TLR4 alleles are associated with a predisposition to a more severe disease outcome for patients with septic shock. We genotyped 91 patients with septic shock as well as 73 healthy blood donor controls for the presence of the TLR4 Asp299Gly and TLR4 Thr399Ile mutations.
RESULTS: We found the TLR4 Asp299Gly allele exclusively in patients with septic shock (P =.05). Furthermore, patients with septic shock with the TLR4 Asp299Gly/Thr399Ile alleles had a higher prevalence of gram-negative infections.
CONCLUSION: Mutations in the TLR4 receptor may predispose people to develop septic shock with gram-negative microorganisms.

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Year:  2002        PMID: 11996613     DOI: 10.1001/archinte.162.9.1028

Source DB:  PubMed          Journal:  Arch Intern Med        ISSN: 0003-9926


  171 in total

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Review 4.  Immunogenomics and systems biology of vaccines.

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Review 6.  The role of Toll-like receptors in renal diseases.

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8.  Toll-like receptor (TLR) polymorphisms in African children: Common TLR-4 variants predispose to severe malaria.

Authors:  Frank P Mockenhaupt; Jakob P Cramer; Lutz Hamann; Miriam S Stegemann; Jana Eckert; Na-Ri Oh; Rowland N Otchwemah; Ekkehart Dietz; Stephan Ehrhardt; Nicolas W J Schröder; Ulrich Bienzle; Ralf R Schumann
Journal:  Proc Natl Acad Sci U S A       Date:  2005-12-21       Impact factor: 11.205

9.  Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility.

Authors:  Irina Smirnova; Navjiwan Mann; Annemiek Dols; H H Derkx; Martin L Hibberd; Michael Levin; Bruce Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-02       Impact factor: 11.205

Review 10.  Human genetic factors and respiratory syncytial virus disease severity.

Authors:  Isao Miyairi; John P DeVincenzo
Journal:  Clin Microbiol Rev       Date:  2008-10       Impact factor: 26.132

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