0Perica et al. Pediatric Rheumatology 2013, 11(Suppl 2):P90
http://www.ped-rheum.com/content/11/S2/P90 * % PEDIATRIC
RHEUMATOLOGY
POSTER PRESENTATION Open Access
PReS-FINAL-2078: Single nucleotide polymorphisms of toll like receptors 2 and 4 in enthesitis related arthritis and oligo and polyarticular juvenile idiopathic arthritis
1 * 1 1 1 ^ 1
M Perica , M Peric , M Vidovic , L Tambic Bukovac , L Lamot , J Barbie , M Harjacek
From 20th Pediatric Rheumatology European Society (PReS) Congress Ljubljana, Slovenia. 25-29 September 2013
Introduction
Single nucleotide polymorphisms of Toll like receptors modify cellular immune response and induce proinflammatory cytokine production and therefore could be associated with enthesitis related arthritis (ERA) and/ or oligoarticular and polyarticular juvenile idiopathic arthritis (JIA).
Objectives
To determine whether polymorphisms of TLR2 and TLR4 influence susceptibility to ERA or JIA.
Methods
DNA was extracted from blood samples of 19 ERA patients, 10 patients with oligoarticular or polyarticular JIA and 40 healthy controls, all diagnosed according to ILAR criteria. Polymorphisms of the TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) were determined using real time and multiplex PCR.
Results
All JIA patients were carriers of wild type allele for all three polymorphisms. Regarding Arg753Gln polymorphism of TLR2, only one patient with ERA (5.56%) and 2 healthy controls (5%) were carriers of heterozygous allele. There were no homozygous mutants. All ERA patients had wild type allele for Asp299Gly polymorphism of TLR4. For Thr399Ile polymorphism of TLR4, 21.05% ERA
patients were heterozygous (CT variant), and none of the ERA patients was homozygous (TT variant), (CC vs CT variant in ERA OR 3.7500, 95% CI 1.0498-13.3952, p 0.0419, CC vs TT variant OR 31.0000, 95% CI 1.7309555.1867, p 0.0197). In group of healthy controls, TLR4 polymorphisms Asp299Gly and Thr399Ile were in linkage disequilibrium; 2 controls were hetrozygous and 6 homozygous variant carriers for both polymorphisms, whereas linkage disequilibrium was not found among patient groups (CC vs CT in controls OR 16.0000, 95% CI 3.5905-71.2994, p 0.0003, CC vs TT OR 5.3333, 95% CI 2.0099-14.1524, p 0.1944).
Conclusion
Polymorphisms of TLR2 and TLR4 are not associated with oligoarticular/polyarticular JIA. There was also no evidence that variants of TLR are major risk factors for ERA, however, lack of susceptibility should be confirmed on larger group of patients, since four out of 19 patients (21,05%) were heterozygous. A study on larger cohort is currently ongoing.
Disclosure of interest
None declared.
Authors' details
department of Rheumatology, Children's HospitalSrebrnjak, Zagreb, Croatia. institute of Public Health, Osijek, Croatia. 3University of Osijek, Schoolof Medicine, Osijek, Croatia.
department of Rheumatology, Children's HospitalSrebrnjak, Zagreb, Croatia Fulllist of author information is available at the end of the article
© 2013 Perica et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http:// creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
BioMed Central
Perica et al. Pediatric Rheumatology 2013, 11(Suppl 2):P90 Page 2 of 2
http://www.ped-rheum.com/content/11/S2/P90
Published: 5 December 2013
doi:10.1186/1546-0096-11-S2-P90
Cite this article as: Perica et al.: PReS-FINAL-2078: Single nucleotide polymorphisms of toll like receptors 2 and 4 in enthesitis related arthritis and oligo and polyarticular juvenile idiopathic arthritis. Pediatric Rheumatology 2013 11 (Suppl 2):P90.
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