Gene polymorphisms of Interleukin-4 in allergic rhinitis and its association with clinical phenotypes

Movahedi, Masoud; Amirzargar, Ali Akbar; Nasiri, Rasoul; Hirbod-Mobarakeh, Armin; Farhadi, Elham; Tavakol, Marzieh; Behniafard, Nasrin; Ansaripour, Bita; Moradi, Babak; Zare, Ahad; Rezaei, Nima

doi:10.1016/j.amjoto.2013.05.002

Cited by 32 publications

(17 citation statements)

References 46 publications

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“…Previous research showed the genotype and haplotype of rs2243248 of IL‐4 gene had a significant negative correlation with allergic rhinitis and chronic periodontitis; the association of IL‐4 expression or polymorphism and SAPHO had not been reported until now. In this study, we showed for the first time, that the G allele of rs2243248 (IL‐4) is a high risk factor for SAPHO, suggesting that individuals with the TT genotype are unlikely to be prone to SAPHO.…”

Section: Discussionmentioning

confidence: 95%

Association analysis of interleukin‐23 receptor SNPs and SAPHO syndrome in Chinese people

Guo

Han

et al. 2019

Int J of Rheum Dis

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Objective: SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is an autoimmune disease of unknown etiology that seriously affects patients' daily lives. Family-based investigations support genetic contributions toward disease susceptibility. The present study evaluated whether the previously reported autoimmune disease-associated single nucleotide polymorphisms (SNPs) have any genetic overlap with SAPHO syndrome. Method:Genomic DNA was obtained from 71 SAPHO patients and 104 healthy controls.The SNP genotypes of each patient were determined with polymerase chain reaction and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Genotype, allele, and haplotype frequencies were analyzed with SPSS software. Results: Three SNP sites (rs10889677 and rs2201841 of interleukin [IL]-23R, and rs2243248 of IL-4) showed significant correlation with the occurrence of SAPHO syndrome in additive and dominant genetic models, while rs7517847 of IL-23R showed substantial correlation with SAPHO in the dominant genetic model. The G allele of rs2243248 (IL-4) was a high risk factor for SAPHO (P = 2.41e−5, odds ratio [OR] =7.79, 95% CI: 2.59-23.3). The haplotype (A-G-C-G-T), comprising 5 SNPs of the IL-23R gene, had a significantly higher frequency in the SAPHO cohort than in the controls (P = .011, OR = 2.05, 95% CI: 1.12-3.60). Conclusion: Variants rs10889677, rs2201841, and rs7517847 of IL-23R, and variant rs2243248 of IL-4, showed strong associations with SAPHO syndrome. Patients carrying the A-G-C-G-T haplotype of IL-23 are significantly more likely to develop SAPHO syndrome. K E Y W O R D S CDKAL1, IL-23R, IL-4, SAPHO syndrome, SNPs | 2179 GUO et al.The underlying mechanisms of SAPHO syndrome are still controversial. Previous research has reported that various proteins, including Pstpip1, Pstpip2, and Lpin2, are associated with SAPHO and other autoimmune diseases. 2,3 In mice, the Laxer group found that dysregulation of IL-1 signaling can drive sterile osteomyelitis in Pstpip2-deficient mice. 4,5 However, genetic screening did not find any specific variants in the Pstpip1, Pstpip2, NOD2 or LPIN2 genes in patients with SAPHO syndrome. 6,7 Another group reported that the Mdm2 single nucleotide polymorphism (SNP) 309 G allele and the p53 SNP 72 C allele were risk alleles in a cohort of SAPHO patients. 8 In 2014, Firinu et al observed that TH17 lymphocytes were highly elevated in the peripheral blood of SAPHO subjects, suggesting that activation of the TH17 axis plays an important role in SAPHO syndrome. 9 Based on these reports, in this study we tested

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Section: Discussionmentioning

confidence: 95%

Association analysis of interleukin‐23 receptor SNPs and SAPHO syndrome in Chinese people

Guo

Han

et al. 2019

Int J of Rheum Dis

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“…Modest associations between single-nucleotide polymorphisms (SNPs) in Th2 cytokine genes and risk of allergic rhinitis, with IL-4 and IL-13 SNPs, were reported in some studies [17,18], but not in others [19].…”

Section: Th2 Type Cytokinesmentioning

confidence: 99%

The paradigm of cytokine networks in allergic airway inflammation

Pawankar

Hayashi

Yamanishi

et al. 2015

Current Opinion in Allergy &Amp; Clinical Immunology

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“…There are slightly less studies of the IL-4 gene polymorphism in patients with AR. Thus, when studying SNPs of the IL-4 (rs2243248, rs2243250 and rs2070874) in 98 patients with AR, it was found that C/C genotype in (rs2070874) was significantly correlated with AR development, and SNPs of the IL-4 could change the clinical picture of the disease [20].…”

Section: Discussionmentioning

confidence: 99%

Characteristics of interleukin-4 gene (C-589T, rs2243250) polymorphism in children with bronchial asthma and allergic rhinitis with isolated or allergic rhinitis-induced comorbid malocclusion

Shumna

Fedosieieva

Zinchenko

et al. 2019

ZMJ

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A -research concept and design; B -collection and/or assembly of data; C -data analysis and interpretation; D -writing the article; E -critical revision of the article; F -final approval of the article Purpose. To determine the frequency of interleukin-4 (IL-4) (C-589T, rs2243250) single nucleotide polymorphism in children with bronchial asthma (BA) and allergic rhinitis (AR) and with isolated or allergic rhinitis-induced comorbid malocclusion. Materials and methods.Single nucleotide polymorphism of the IL-4 (C-589T, rs2243250) gene was analyzed in 170 children aged between 6 and 17 years, 11 months, 29 days. Group I included 89 children with BA; Group II consisted of 31 children with AR; Group III was composed of 27 children with AR and distal occlusion (DO); Group ІV comprised 23 children with malocclusion. Genotyping was performed using a commercial "SNP-express RT" kit by real-time polymerase chain reaction method (Applied Biosystems, USA) via TagMan ® SNP Genotyping Assay on an amplifier CFX96 TM Real-Time PCR Detection System (Bio-Rad Laboratories, Inc., USA).DNA was isolated using a commercial DNA-express kit ("LLC Research and Production Company LITEKH"). The general, recessive and dominant models of inheritance and the odds ratios with a 95 % confidence interval were used for the analysis. The results analysis was conducted using the Statistica 6.0 RU licensed software package.Results. IL-4 (C-589T, rs2243250) gene polymorphism in children with allergy and malocclusion living in Zaporizhzhia was analyzed for the first time. The frequency of C/C -C/T -T/T genotypes registration was 69.66 % -22.47 % -7.87 % of cases in children with BA; 58.06 % -38.71 % -3.23 % in children with AR; 62.96 % -29.63 % -7.40 % in AR with DO. On the contrary, in children with malocclusion, the C/C (34.78 %) and T/T (4.35 %) genotypes were registered less frequently and the C/T genotype (60.87 %) was recorded more often as a genetic feature of the DO phenotype.Conclusions. The C/C genotype of IL-4 (C-589T, rs2243250) gene was associated with bronchial asthma (OR = 4.31; 95 % CI = 1.63-11.36; P = 0.002) and allergic rhinitis (OR = 4.32 (95 % CI = 1.04-7.81; P = 0.04), in comparison with the fact that the C/T + T/T genotype indicated a predisposition to malocclusion development.Характеристика поліморфізму гена інтерлейкіну-4 (С-589Т, rs2243250) у дітей із бронхіальною астмою, алергічним ринітом і з ортодонтичною патологією, яка ізольована чи коморбідна з алергічним ринітом Т. Є. Шумна, О. С. Федосєєва, Т. П. Зінченко, С. М. Недельська, О. В. Возний, О. М. Камишний Мета роботи -визначити частоту однонуклеотидного поліморфізму гена інтерлейкіну-4 (IL-4) (С-589Т, rs2243250) у дітей із бронхіальною астмою (БА), алергічним ринітом (АР) та з ортодонтичною патологією, що ізольована чи сформована на тлі алергічного риніту. Матеріали та методи. Дослідження поліморфізму гена IL-4 (С-589Т, rs2243250) виконали у 170 дітей віком від 6 до 17 років, 11 місяців, 29 днів. У І групу спостереження увійшли 89 дітей із БА; у ІІ групу -31 дитина з АР; ...

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Gene polymorphisms of Interleukin-4 in allergic rhinitis and its association with clinical phenotypes

Cited by 32 publications

References 46 publications

Association analysis of interleukin‐23 receptor SNPs and SAPHO syndrome in Chinese people

Association analysis of interleukin‐23 receptor SNPs and SAPHO syndrome in Chinese people

The paradigm of cytokine networks in allergic airway inflammation

Characteristics of interleukin-4 gene (C-589T, rs2243250) polymorphism in children with bronchial asthma and allergic rhinitis with isolated or allergic rhinitis-induced comorbid malocclusion

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