Interleukin-1 Gene Cluster Polymorphisms in Sarcoidosis  and Idiopathic Pulmonary Fibrosis

Hutyrová, Beáta; Pantelidis, Panagiotis; Drábek, Jir̆ı́; Žůrková, Monika; Kolek, Vı́tězslav; Lenhart, K; Welsh, Kenneth I.; Bois, Roland M. du; Petřek, Martin

doi:10.1164/ajrccm.165.2.2106004

Cited by 120 publications

(69 citation statements)

References 26 publications

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“…In other studies the variable number of tandem repeats (VNTR) in intron 2 of IL1RN was investigated and found to be in linkage disequilibrium with the IL1RN + 2018 SNP. However, both a small Australian [7] and an independent Czech cohort [12] 1·3 (0·5-3·8)* 0·2 (0·1-0·3) Eosinophils (¥10 6 ) 0·8 (0·4-2·7)* 0·03 (0·01-0·08) *P < 0·05 compared to healthy controls. IQR: interquartile range.…”

Section: Discussionmentioning

confidence: 96%

Genetic variability in the IL1RN gene and the balance between interleukin (IL)-1 receptor agonist and IL-1β in idiopathic pulmonary fibrosis

Barlo¹,

Moorsel

Korthagen³

et al. 2011

Clinical and Experimental Immunology

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SummaryIdiopathic pulmonary fibrosis (IPF) is a rapidly progressive interstitial lung disease of unknown aetiology. Interleukin (IL)-1b plays an important role in inflammation and has been associated with fibrotic remodelling. We investigated the balance between IL-1b and IL-1 receptor antagonist (IL-1Ra) in bronchoalveolar lavage fluid (BALF) and serum as well as the influence of genetic variability in the IL1B and IL1RN gene on disease susceptibility and cytokine levels. In 77 IPF patients and 349 healthy controls, single nucleotide polymorphisms (SNPs) in the IL1RN and IL1B genes were determined. Serum and BALF IL-1Ra and IL-1b levels were measured using a multiplex suspension bead array system and were correlated with genotypes. Both in serum and BALF a significantly decreased IL-1Ra/IL-1b ratio was found in IPF patients compared to healthy controls. In the IL1RN gene, one SNP was associated with both the susceptibility to IPF and reduced IL-1Ra/IL-1b ratios in BALF. Our results show that genetic variability in the IL1RN gene may play a role in the pathogenesis of IPF and that this role may be more important than thought until recently. The imbalance between IL-1Ra and IL-1b might contribute to a proinflammatory and pro-fibrotic environment in their lungs.

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Section: Discussionmentioning

confidence: 96%

Genetic variability in the IL1RN gene and the balance between interleukin (IL)-1 receptor agonist and IL-1β in idiopathic pulmonary fibrosis

Barlo¹,

Moorsel

Korthagen³

et al. 2011

Clinical and Experimental Immunology

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“…An IL1A single-nucleotide polymorphism (SNP), IL1A À889 C to T, has been associated with myasthenia gravis, 17 sarcoidosis, 18 age of onset of migraine 19 and juvenile rheumatoid arthritis. 20 Two SNPs in IL1B have reported genetic associations with disease.…”

Section: Introductionmentioning

confidence: 99%

Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case–control study

et al. 2003

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Interleukin-1 (IL1) is a potent endogenous pyrogen and inducer of the acute phase response, and these innate immune responses are an important part of the human host's initial reaction to infection by the malaria parasite. In addition, several single-nucleotide polymorphisms (SNPs) in this region have previously been demonstrated to be associated with susceptibility to infectious disease. Therefore, a possible association with malaria susceptibility was investigated. A total of 13 polymorphic markers were used in a two-stage screening strategy to genotype a Gambian case -control study group by either restriction endonuclease digestion or the Sequenom MassARRAYt assay. This involved an initial screen of 188 severe cases and 188 mild controls, and if there was a significant association with a malaria phenotype (Po0.05); this was followed by screening of the remaining 1044 samples. Two markers showed significant association with malaria: interleukin-1 alpha þ 4845 G-T (P ¼ 0.035 for mild malaria versus controls) and interleukin-1 beta þ 3953 C-T (P ¼ 0.030 for mild malaria versus severe malaria). Haplotypes constructed using the SNPHAP programme were not associated with any of the malaria phenotypes investigated. In summary, if IL1 variants are involved in malaria susceptibility in the Gambia at all, then the effects are small.

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“…IL1b and IL-1 receptor antagonists (IL-1RN or IL-1RA) both are very important members of the IL-1 family. 9 Both IL-1b and IL-1RN molecules bind to IL-1 receptors. IL-1b is a potent proinflammatory cytokine, while IL-1RN acts as an anti-inflammatory cytokine that competes with IL-1b for binding to IL-1 receptors without intrinsic effects.…”

Section: W Orldwide Hepatitis B Virus (Hbv) Associatedmentioning

confidence: 99%

“…The primers used to amplify the target region were IL-1RN-F (5 0 -CTCAGCAACACTCC-TAT-3 0 ) and IL-1RN-R (5 0 -TCCTGGTCTGCAGGTAA-3 0 ). 9 The fragment sizes are: 410 b.p., 240 b.p., 325 b.p, 500 b.p. and 595 b.p.…”

Section: Dna Extraction Hbv Dna Detection and Quantificationmentioning

confidence: 99%

Association of Interleukin-1β and Gene Polymorphisms with Liver Pathogenesis in Hepatitis B Virus Infection among Eastern Indian Population

Biswas

Panigrahi

Pal

et al. 2013

Journal of Clinical and Experimental Hepatology

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Background: Interleukin-1b (IL-1b) is an important member of the family of the proinflammatory cytokines that modulate outcome of hepatitis B virus (HBV) infection. Objectives: This study was designed to investigate the relationship between the polymorphic genotypes of the interleukin-1b (IL-1b) promoter region and the interleukin-1 receptor antagonist gene (IL-1RN) and disease outcome in HBV-infected individuals. Methods: DNA was extracted from 395 study subjects including HBV carriers with varying clinical presentations, as well as healthy controls and spontaneously recovered cases (SRC). Polymorphisms in IL-1b (at position À511) and IL-1RN (variable nucleotide tandem repeats, VNTR) were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and PCR based assay respectively. Results: Among the study subjects, different IL-1b (at position À511) (CC, CT and TT) and IL-1RN (1/1, 1/2, 2/2 and 1/3) polymorphic genotypes were found at variable proportions. Logistic regression analysis revealed, no notable difference at the level of IL-1b promoter (P = 0.244; OR = 0.78; 95% CI = 0.52-1.18) or IL-1RN genotype polymorphism (P = 0.840; OR = 1.03; 95% CI = 0.78-1.36) among the HBV carriers and controls or SRC cases. Pairwise proportion testing showed, IL-1b À511 genotype CC was significantly higher among asymptomatic carriers (ASC) in comparison with liver cirrhosis (LC) patients (P value = 0.028) and healthy control group (P-value = 0.036). IL-1RN genotype 2/2 was considerably higher in LC group than SRC as well as control group. Combinations of IL-1b (À511) and IL-1RN polymorphisms were associated with disease progression, such as CC-1/2 with ASC and TT-2/2 with LC. Conclusion: IL-1b polymorphisms are found to be associated with disease severity. Different polymorphic combinations are associated with degree of disease severity. Overall this is the first report from Eastern India, which shows association of IL-1b polymorphisms with HBV-related hepatic complications. ( J CLIN EXP HEPATOL 2013;3:281-287)

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Interleukin-1 Gene Cluster Polymorphisms in Sarcoidosis and Idiopathic Pulmonary Fibrosis

Cited by 120 publications

References 26 publications

Genetic variability in the IL1RN gene and the balance between interleukin (IL)-1 receptor agonist and IL-1β in idiopathic pulmonary fibrosis

Genetic variability in the IL1RN gene and the balance between interleukin (IL)-1 receptor agonist and IL-1β in idiopathic pulmonary fibrosis

Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case–control study

Association of Interleukin-1β and Gene Polymorphisms with Liver Pathogenesis in Hepatitis B Virus Infection among Eastern Indian Population

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