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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
Full text not available from this repository.Abstract
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 |
| URI: | http://sro.sussex.ac.uk/id/eprint/7144 |
| Google Scholar: | 5 Citations |