Higher frequency of allele 2 of the interleukin-1 receptor antagonist gene in patients with juvenile idiopathic arthritis

Vencovský, Jiří; Jarošová, Kateřina; Růžicková, Š; Němcová, D.; Niederlova, J; Özen, Seza; Alikaşifoğlu, Mehmet; Bakkaloğlu, Ayşı̇n; Ollier, William; Mageed, Rizgar A.

doi:10.1002/1529-0131(200110)44:10<2387::aid-art403>3.0.co;2-7

Cited by 37 publications

(12 citation statements)

References 16 publications

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“…The polymorphic region within intron 2 of the IL-1RN gene contains a variable numbers of tandem repeats of 86 bp. Although allele 2 (IL-1RN*2) was found to be more frequent among patients with autoimmune diseases such as systemic lupus erythematosus, Sjogren's syndrome, or juvenile idiopathic arthritis (14,15), the data on its association with RA are still contradictory (16).…”

Section: Introductionmentioning

confidence: 99%

Interleukin‐1 receptor antagonist gene polymorphism and hepcidin in rheumatoid arthritis: Correlations with clinical and laboratory indices of disease activity

2013

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Section: Introductionmentioning

confidence: 99%

Interleukin‐1 receptor antagonist gene polymorphism and hepcidin in rheumatoid arthritis: Correlations with clinical and laboratory indices of disease activity

2013

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“…34 A variable number tandem repeat in IL1RN has been associated with JIA as a whole, when the subtypes were examined separately this was also significant in the subtypes of extended oligoarthritis, enthesitis-related arthritis and other arthritis, but not sJIA. 35 To date no IL-1 family associations have been found with the systemic subtype of JIA specifically, 33,35,36 however, these studies were designed to investigate JIA as a whole and therefore in subgroup analyses the systemic subtype was underpowered. Previous association studies of the IL-1 family have also only looked at limited polymorphic diversity in one or two of the family members while a complete screen of all the members is necessary to be able to fully understand the involvement of IL-1 in disease susceptibility.…”

Section: Introductionmentioning

confidence: 99%

Comprehensive association study of genetic variants in the IL-1 gene family in systemic juvenile idiopathic arthritis

et al. 2008

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Patients with systemic juvenile idiopathic arthritis (sJIA) have a characteristic daily spiking fever and elevated levels of inflammatory cytokines. Members of the interleukin-1 (IL-1) gene family have been implicated in various inflammatory and autoimmune diseases, and treatment with the IL-1 receptor antagonist, Anakinra, shows remarkable improvement in some patients. This work describes the most comprehensive investigation to date of the involvement of the IL-1 gene family in sJIA. A two-stage case-control association study was performed to investigate the two clusters of IL-1 family genes using a tagging single nucleotide polymorphism (SNP) approach. Genotyping data of 130 sJIA patients and 151 controls from stage 1 highlighted eight SNPs in the IL1 ligand cluster region and two SNPs in the IL1 receptor cluster region as showing a significant frequency difference between the populations. These 10 SNPs were typed in an additional 105 sJIA patients and 184 controls in stage 2. Meta-analysis of the genotypes from both stages showed that three IL1 ligand cluster SNPs (rs6712572, rs2071374 and rs1688075) and one IL1 receptor cluster SNP (rs12712122) show evidence of significant association with sJIA. These results indicate that there may be aberrant control of the activity of the IL-1 family in sJIA patients causing the increased susceptibility to the disease.

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“…A possible relation between IL-1Ra allele 2 and numerous rheumatic disorders has been investigated. A relation was suggested between IL-1Ra allele 2 and severe forms of Sjogren's syndrome, skin disease in systemic lupus erythematosus, juvenile idiopathic inflammatory myopathies, and juvenile chronic arthritis, especially in patients with a prolonged oligoarticular involvement (17,(22)(23)(24).…”

Section: Discussionmentioning

confidence: 99%

Investigation of the role of interleukin 1 receptor antagonist VNTR variant on the Behçet's disease

Dursun¹,

Demir²,

Karakuş³

et al. 2017

Eur J Rheumatol

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Objective: Behçet's disease (BD), a chronic multisystem inflammatory disorder, is mainly characterized by relapsing periods of a wide range of clinical symptoms. Several cytokine genes may play important roles in the pathogenesis of BD. Therefore, interleukin-1 receptor antagonist (IL-1Ra) gene 86bp variable number tandem repeat (VNTR) variant was investigated in patients with BD in a Turkish population. Material and methods: One hundred nine patients (60 females, 49 males; the mean age±standard deviation [SD] was 36.56±9.571 years) with BD and one hundred healthy individuals (54 females, 46 males; the mean age±SD was 36.64±2.294 years) were examined in the study. For genotyping, polymerase chain reaction-restriction fragment length polymorphism analysis was employed. Data were analyzed using Statistical Package for Social Sciences (SPSS) 22.0 (p<0.05). Results: The genotype distribution and allele frequencies of the IL-1Ra VNTR variant did not differ significantly between the patients and the controls (p>0.05). The frequency of the a1/a1, a1/a2 genotypes and a1, a2 alleles were the most common both in patients and healthy controls (p=0.37, p=0.26, and p=0.53, respectively). Also, no statistically significant difference was found between the IL-1Ra VNTR variant genotypes and clinical characteristics (p>0.05). Conclusion:The results of this study do not support an association between the IL-1Ra VNTR variant and the risk of BD in a Turkish population. However, further studies of this variant with larger sample sizes and different ethnicities are required for confirmation.

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Higher frequency of allele 2 of the interleukin-1 receptor antagonist gene in patients with juvenile idiopathic arthritis

Cited by 37 publications

References 16 publications

Interleukin‐1 receptor antagonist gene polymorphism and hepcidin in rheumatoid arthritis: Correlations with clinical and laboratory indices of disease activity

Interleukin‐1 receptor antagonist gene polymorphism and hepcidin in rheumatoid arthritis: Correlations with clinical and laboratory indices of disease activity

Comprehensive association study of genetic variants in the IL-1 gene family in systemic juvenile idiopathic arthritis

Investigation of the role of interleukin 1 receptor antagonist VNTR variant on the Behçet's disease

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