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@proceedings{1384741,
author = {Valová, Simona and Bořilová Linhartová, Petra and Masopustová, Lucie and Bártová, Jiřina and Petanová, Jitka and Kuklínek, Pavel and Fassmann, Antonín and Izakovičová Hollá, Lydie},
booktitle = {8th European Immunology Conference, Madrid, Spain},
keywords = {recurrent aphthous stomatitis; NLRP3; polymorphism},
language = {eng},
title = {The NOD-like receptor (NLRP3) gene variability in patients with recurrent aphthous stomatitis},
year = {2017}
}
TY - CONF
ID - 1384741
AU - Valová, Simona - Bořilová Linhartová, Petra - Masopustová, Lucie - Bártová, Jiřina - Petanová, Jitka - Kuklínek, Pavel - Fassmann, Antonín - Izakovičová Hollá, Lydie
PY - 2017
TI - The NOD-like receptor (NLRP3) gene variability in patients with recurrent aphthous stomatitis
KW - recurrent aphthous stomatitis
KW - NLRP3
KW - polymorphism
N2 - Statement of the Problem: Recurrent aphthous stomatitis (RAS) is a multifactorial disease with an unclear etiopathogenesis, resulting from the interplay between genetic and environmental factors. As the dysregulation of the immune system can play a role in the RAS development, single nucleotide polymorphisms (SNPs) in the genes for immune and inflammatory molecules were studied. The NOD-like receptor (NLRP3) gene, encoding the component of the inflammasome, has been proposed as one of the candidate genes for RAS. The aim of our study was to investigate three SNPs (rs4612666, rs10754558, rs3806265) in NLRP3 gene in patients with RAS and healthy controls in the Caucasian population Methodology: A total of 200 Czech subjects were enrolled in this case-control study. 143 healthy controls, 57 patients with RAS were genotyped by method based on polymerase chain reaction using 5´ nuclease TaqMan assays. Clinical parameters such as complete blood count, levels of immunoglobulins including allergen-specific immunoglobulin E or presence of antibodies against cytomegalovirus, Epstein-Barr virus were determined in RAS patients. Findings: Although no significant differences in the NLRP3 (rs10754558, rs3806265) allele and genotype frequencies between patients with RAS and controls were observed, statistically significant differences in NLRP3 rs4612666 genotype frequencies between subjects with RAS and controls were found. Carriers of NLRP3 rs4612666 TT genotype had a higher risk of developing RAS in comparison to subjects with CT + CC genotypes (OR = 16.71, 95% CI = 1.96-142.14, P = 0.0024). No association between NLRP3 haplotypes and RAS was detected. Conclusion; Significance: In contrast to the previous study5, associations between NLRP3 (rs10754558, rs3806265) polymorphisms and RAS were not confirmed. However, we suggest that NLRP3 rs4612666 polymorphism can strongly influence the risk of developing RAS in the Czech population.
ER -
VALOVÁ, Simona, Petra BOŘILOVÁ LINHARTOVÁ, Lucie MASOPUSTOVÁ, Jiřina BÁRTOVÁ, Jitka PETANOVÁ, Pavel KUKLÍNEK, Antonín FASSMANN a Lydie IZAKOVIČOVÁ HOLLÁ. The NOD-like receptor (NLRP3) gene variability in patients with recurrent aphthous stomatitis. In \textit{8th European Immunology Conference, Madrid, Spain}. 2017. ISSN~2155-9899.
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