Modifier effect of the Toll-like receptor 4 D299G polymorphism in children with cystic fibrosis

Urquhart, Donald S., Allen, Jennifer, Elrayess, Mohamed, Fidler, Katy, Klein, Nigel and Jaffe, Adam (2006) Modifier effect of the Toll-like receptor 4 D299G polymorphism in children with cystic fibrosis. Archivum Immunologiae et Therapiae Experimentalis, 54 (4). pp. 271-276. ISSN 0004-069X

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Introduction: Clinical phenotype varies amongst cystic fibrosis (CF) patients with identical CF transmembrane regulator
(CFTR) genotype, suggesting genetic modifiers exist. One potential modifier is the Toll-like receptor 4 (TLR4) gene. TLR4
binds lipopolysaccharide (LPS), a constituent of Pseudomonas aeruginosa (PA), activating innate immunity and promoting
inflammation. TLR4 polymorphisms are associated with LPS-hyporesponsiveness and may be protective in CF due to
decreased inflammation.
Materials and Methods: DNA was extracted from blood of recruited CF subjects, and PCR performed to establish TLR4
D299G genotype. Case-notes were reviewed to obtain clinical data. Subjects possessing the TLR4 299G allele were compared
with age, sex, and CFTR genotype-matched wild-type (299DD) subjects and also with all controls.
Results: 100 subjects (mean age 8.9 years) were studied, with 11 299DG heterozygotes identified. On case-matched analyses,
no statistically significant differences between groups were found for mean

Item Type: Article
Additional Information: IDS Number: 077QZ
Keywords: cystic fibrosis, genotype-phenotype correlation, modifier genes, Toll-like receptor 4.
Schools and Departments: Brighton and Sussex Medical School > Clinical and Experimental Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RJ Pediatrics
Depositing User: Laura Downs
Date Deposited: 22 Aug 2011 16:11
Last Modified: 30 Nov 2012 16:55
Google Scholar:5 Citations
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