Single nucleotide polymorphism of toll-like receptor 4 (TLR4) is associated with juvenile spondyloarthritis in Croatian population.
Single nucleotide polymorphisms (SNP) of toll-like and NOD-like receptors have been associated with altered receptor activity and modified production of proinflammatory cytokines leading to a number of diseases. Our aim was to determine whether SNP of TLR2 (Arg753Gln), TLR4 (Asp299Gly, Thr399Ile), and NLRP3 (Q705K) influence susceptibility to juvenile spondyloarthrtis (jSpA) and juvenile idiopathic arthritis (JIA). After the DNA extraction, 26 patients with jSpA, 11 with oligoarticular, polyarticular, or systemic JIA, and 40 healthy controls were genotyped for Arg753Gln, Asp299Gly, Thr399Ile, and Q705K SNP using real-time PCR-SNP analysis. Statistically significant difference in genotype frequency for Thr399Ile SNP of TLR4 was observed in the jSpA (χ2 = 6.705, p = 0.035) and not in the JIA group (χ2 = 3005, p = 0.223). Regarding Asp299Gly SNP, no significant difference in genotype frequency was found; however, allele frequency was significant in both jSpA and JIA patients. No significant difference in genotype or allele frequency was observed for Arg735Gln and Q705K SNP. The399Ile polymorphism of TLR4 may be responsible for altered immune response to microbial infection in variant carriers and represent a mechanism of triggering overproduction of proinflammatory cytokines and long-term inflammation in jSpA. SNP of TLR2, NLRP3, and TLR4 (Asp299Gly) were not associated with jSpA or JIA.
Department of Pediatric Rheumatology, Children's Hospital Srebrnjak, Srebrnjak 100, 10000, Zagreb, Croatia. marija_perica@hotmail.com.
Marija
M
Perica
Department of Pediatric Rheumatology, Children's Hospital Srebrnjak, Srebrnjak 100, 10000, Zagreb, Croatia. vidovicmand@yahoo.com.
Mandica
M
Vidović
Department of Pediatric Rheumatology, Children's Hospital Srebrnjak, Srebrnjak 100, 10000, Zagreb, Croatia. lovro.lamot@gmail.com.|School of Medicine, University of Zagreb, Zagreb, Croatia. lovro.lamot@gmail.com.
Lovro
L
Lamot
Department of Pediatric Rheumatology, Children's Hospital Srebrnjak, Srebrnjak 100, 10000, Zagreb, Croatia. lanabukovac@gmail.com.
Lana Tambić
LT
Bukovac
Ruđer Bošković Institute, Zagreb, Croatia. kapitan@irb.hr.
Sanja
S
Kapitanović
Institute for Public Health, Osijek, Croatia. magdalena0706@gmail.com.
Magdalena
M
Perić
Clinical Hospital Centre Osijek, Osijek, Croatia. jerko.barbic@mefos.hr.|School of Medicine, University of Osijek, Zagreb, Croatia. jerko.barbic@mefos.hr.
Jerko
J
Barbić
Department of Pediatric Rheumatology, Children's Hospital Srebrnjak, Srebrnjak 100, 10000, Zagreb, Croatia. miroslav.harjacek@zg.t-com.hr.|School of Medicine, University of Zagreb, Zagreb, Croatia. miroslav.harjacek@zg.t-com.hr.
Miroslav
M
Harjaček
D000293:Adolescent; D000328:Adult; D001171:Arthritis, Juvenile / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D017523:Croatia; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D025242:Spondylarthropathies / Q000235:genetics*; D051195:Toll-Like Receptor 2 / Q000235:genetics; D051197:Toll-Like Receptor 4 / Q000235:genetics*; D044465:White People / Q000235:genetics; D055815:Young Adult
D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; C495342:TLR2 protein, human; C495345:TLR4 protein, human; D051195:Toll-Like Receptor 2; D051197:Toll-Like Receptor 4
Juvenile idiopathic arthritis; Juvenile spondyloarthritis; Single nucleotide polymorphism; Toll-like receptor