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

journal contribution
posted on 2023-06-07, 16:02 authored by Donald S. Urquhart, Jennifer Allen, Mohamed Elrayess, Katy FidlerKaty Fidler, Nigel Klein, Adam Jaffe
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

History

Publication status

  • Published

Journal

Archivum Immunologiae et Therapiae Experimentalis

ISSN

0004-069X

Publisher

INST IMMUNOLOGY & EXPERIMENTAL THERAPY

Issue

4

Volume

54

Page range

271-276

Department affiliated with

  • Clinical and Experimental Medicine Publications

Notes

IDS Number: 077QZ

Full text available

  • No

Peer reviewed?

  • Yes

Legacy Posted Date

2011-08-22

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