The impact of the IL-1β, IL-1Ra, IL-2, IL-6 and IL-10 gene polymorphisms on the development of Behcet's disease and their association with the phenotype

Barış, Savaş; Akyürek, Ömer; Dursun, Ahmet; Akyol, Mesut

doi:10.1016/j.medcli.2015.09.017

Cited by 16 publications

(4 citation statements)

References 18 publications

(21 reference statements)

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“…Our findings for IL-6 genotypes are corroborated with Turkish, Tunisian, and Korean populations. 36 – 38 In contrast to this, a significant association of CG genotype of IL-6 (174-C/G) with BD was reported in an Iranian population. 26 IL-6 is a pleiotropic cytokine and it plays a significant role in inflammation and immune response.…”

Section: Discussionmentioning

confidence: 67%

<p>Genetic Polymorphisms in Transforming Growth Factor-β, Interferon-γ and Interleukin-6 Genes and Susceptibility to Behcet’s Disease in Saudi Population</p>

Okaily

Alrashidi

Mustafa

et al. 2020

PGPM

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Background Behcet’s disease (BD) is a complex, inflammatory, immune-mediated multi-systemic disease of unknown etiology. Cytokines play major roles in the pathophysiology of BD, and its production may be affected by polymorphism in cytokine genes. Hence, the present study was planned to investigate any possible association between the polymorphism in TGF-β, IFN-γ, and IL-6 genes and BD in the Saudi population. Materials and Methods The present study includes 79 BD cases and 117 age-matched controls. Polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation systems (ARMS) PCR methods were used for polymorphic analysis. Results The heterozygous (CT) and (CT+TT) combined genotypes of TGF-β (509-C/T), heterozygous (AT), variant (TT), and (AT+TT) combined genotypes of IFN-γ (874-A/T) were significantly ( P <0.05) associated with BD in the Saudi population. No significant differences were observed for IL-6 (174-G/C) genotypes and alleles between BD cases and controls. Gender does not reflect any significant genotypic and allelic association with males and females. Conclusion CT genotype of TGF -β, and AT and TT genotypes of IFN -γ could be associative genetic risk factors for BD in Saudis. Regulatory region polymorphism in cytokines gene can increase inflammation and deregulated immune response, which could be risk factor for BD.

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Section: Discussionmentioning

confidence: 67%

<p>Genetic Polymorphisms in Transforming Growth Factor-β, Interferon-γ and Interleukin-6 Genes and Susceptibility to Behcet’s Disease in Saudi Population</p>

Okaily

Alrashidi

Mustafa

et al. 2020

PGPM

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“…Baris et al [79] observed no significant differences between the groups with respect to the IL-1Ra, IL-1β, IL-2, IL-6 and the IL-10 gene polymorphism distributions and suggested that the IL-1RN2 gene polymorphism is correlated with the presence of articular involvement and the IL-1β gene polymorphism with the presence of an ocular lesion. On the basis of the correlations between the articular involvement and IL-1RN, the ocular involvement and the IL-1β, gene polymorphisms, it has been suggested that these polymorphisms could be statistically associated with the disease symptoms and may be used as prognostic factors [79].…”

Section: Il-1β −3962 C/a Polymorphismmentioning

confidence: 98%

“…Talat et al [71] reported that IL-10 serum levels are lower in BD patients than in controls. Baris et al [79] suggested that IL-10 polymorphisms can be statistically associated with the disease symptoms and used as prognostic factors.…”

Section: Il-10 Gene Polymorphismmentioning

confidence: 99%

The Genetic Aspects of Behçet’s Disease: Role of Cytokine Genes Polymorphisms

Asmari¹,

Arfin²

2020

Cytokines

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Behçet's disease (BD) is a complex, multisystemic inflammatory disorder characterized by recurrent oral aphthous ulcers, ocular symptoms, skin lesions, and genital ulcerations. The etiology of BD is not yet clear though various factors including environmental, genetic and immunological ones have been implicated. Genetic predisposition is a major factor in disease susceptibility and multiple host genetic factors have been suggested to be involved in the development of BD. In addition to the positive association of HLAB*51, recent studies report additional independent associations in the non HLA loci. Single nucleotide polymorphisms (SNPs) in various genes including cytokines have been implicated in susceptibility to BD. However, the results are inconsistent and variation are found in several ethnic populations. Therefore, further genetic studies on BD patients of different ethnicity and genes associated with immunity are expected to elucidate BD pathogenesis and will contribute to the development of more targeted therapies and biomarkers.

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“…NLRP3 is a component of the inflammasome complex, which primarily controls IL-1β and IL-18 production (17,18). Mutations of NLRP3 may induce inflammation attacks characterized with enhanced signaling of IL-1β, which is profoundly involved in neutrophil recruitment and BD pathogenesis (19,20). NLRP3 genetic variants have been previously associated with both BD and hereditary periodic fever syndrome, another autoinflammatory condition induced by overactive innate immunity (19,21,22).…”

Section: Nbd (N=15) Hc (N=20) P-valuementioning

confidence: 99%

Enhanced NLRP3 and DEFA1B Expression During the Active Stage of Parenchymal Neuro-Behçet's Disease

Uğurel

Erdağ

Küçükali

et al. 2019

In Vivo

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Background/Aim: Neurological symptoms (neuro-Behçet's disease; NBD) occur in a fraction of Behçet's disease (BD) patients and often present with parenchymal brain lesions and clinical exacerbations. Our aim was to identify genes associated with attack and remission periods of NBD. Materials and Methods: Microarray analysis was performed using peripheral blood mononuclear cell (PBMC) samples obtained during attack and remission periods of five NBD patients. Expression levels of the most significantly upregulated genes were measured with real-time PCR using PBMC samples of 15 NBD patients and 20 healthy controls. Results: During NBD attacks, the most remarkably upregulated genes were defensin alpha 1B (DEFA1B) and NLR family, pyrin domain containing 3 (NLRP3). Real time PCR studies showed significantly increased DEFA1B and NLRP3 expression levels during attacks. Conclusion: Immunological factors showing the most significant increase in expression during NBD attacks were primarily associated with innate immunity functions. DEFA1B and NLRP3 can be used as biomarkers for estimation of disease activity in NBD.

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The impact of the IL-1β, IL-1Ra, IL-2, IL-6 and IL-10 gene polymorphisms on the development of Behcet's disease and their association with the phenotype

Cited by 16 publications

References 18 publications

<p>Genetic Polymorphisms in Transforming Growth Factor-β, Interferon-γ and Interleukin-6 Genes and Susceptibility to Behcet’s Disease in Saudi Population</p>

<p>Genetic Polymorphisms in Transforming Growth Factor-β, Interferon-γ and Interleukin-6 Genes and Susceptibility to Behcet’s Disease in Saudi Population</p>

The Genetic Aspects of Behçet’s Disease: Role of Cytokine Genes Polymorphisms

Enhanced NLRP3 and DEFA1B Expression During the Active Stage of Parenchymal Neuro-Behçet's Disease

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