scholarly journals Association of genetic variations in PTPN2 and CD122 with ocular Behcet’s disease

2018 ◽  
Vol 102 (7) ◽  
pp. 996-1002 ◽  
Author(s):  
Qi Zhang ◽  
Hua Li ◽  
Shengping Hou ◽  
Hongsong Yu ◽  
Guannan Su ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Mononuclear Cells ◽  
Behçet's Disease ◽  
Genetic Variations ◽  
Janus Kinase ◽  
Behcet's Disease ◽  
Pathergy Test ◽  
Significant Difference

BackgroundProtein tyrosine phosphatases (PTPs) play critical roles in human autoimmunity. Previous studies found that PTPN2 may be the key regulatory factor in the T-cell-mediated immune response. PTPN2 regulates the Janus kinase/signal transducers and activators of transcription pathway by inhibiting signalling via the interleukin (IL)-2 receptor (CD122). An association between genetic variations in PTPN2 and CD122 with ocular Behcet’s disease (BD) has not yet been addressed and was therefore the purpose of this study.MethodsA two-stage case–control study was performed in 906 patients with ocular BD and 2178 healthy controls. Genotyping analysis of 11 single nucleotide polymorphisms was carried out. The expression of PTPN2 in peripheral blood mononuclear cells (PBMCs) was quantified by real-time PCR and cytokine production was measured by ELISA.ResultsThe frequency of the GG genotype of PTPN2-rs7234029 was significantly lower in patients with ocular BD (p=1.94×10−5, pc=8.34×10−4, OR=0.466). Stratification according to gender showed that rs7234029 was significantly associated with BD in men. A stratified analysis according to the main clinical features showed that rs7234029 was significantly associated with genital ulcers, skin lesions and a positive pathergy test. No association could be detected between BD and CD122 gene polymorphisms. Functional studies showed that rs7234029 GG genotype carriers had a higher PNPT2 mRNA expression level than those which carrying the AA or AG genotype, and a decreased secretion of IL-17 and tumour necrosis factor-alpha was seen by PBMCs from GG carriers. No significant difference could be detected concerning IL-1β or IL-6 production by stimulated PBMCs between the different genotype groups.ConclusionsThis study shows that a PTPN2-rs7234029 polymorphism is associated with ocular BD and is strongly influenced by gender. In addition, our results suggest that the genetic association with PTPN2 may involve the regulation of PTPN2 mRNA expression and cytokine secretion.

scholarly journals Behcet’s Disease: Systemic and Ocular Manifestations

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Jelena Paovic ◽  
Predrag Paovic ◽  
Vojislav Sredovic
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Combined Therapy ◽  
Control Group ◽  
Ocular Involvement ◽  
Behcet's Disease ◽  
Ocular Manifestations ◽  
Pathergy Test ◽  
Significant Difference

Aim. The aim of this study was to evaluate if patients with Behcet’s disease who have ocular involvement have a more severe form of this disease as compared to patients with Behcet’s disease alone.Methods. A total of 99 patients were included in the study. 76 patients were used as part of the examined group, and 23 patients formed a control group.Results. The following are the results of examined and control groups, respectively: recurrent oral aphthous ulcers 89.5%, 95.7%; genital ulcers 61.8%, 97.0%; articular involvement 72.4%, 65.2%; vasculitis 81.6%, 60.9%; positive pathergy test 25.0%, 47.8%. Higher frequency of genital ulcerations was noted in control group (P=0.001). More than two major criteria were met in 100% of the cases. HLA B51 was present in 78.9% of the cases in the examined group and 43.5% of the cases in control group; thus there is significant difference between them (P=0.001). Visual acuity >0.5 occurred in 76% (examined group). Most frequent ocular manifestations in the examined group were retinal periphlebitis 81.6%, periphlebitis and periarteritis 65%, and serofibrinous uveitis 63.2%. Macular edema as a complication was present in 63.2%. The majority of patients (55.3%) were treated with combined therapy consisting of cyclosporine A and systemic corticosteroids. In 38.2% of patients, laser photocoagulation was used on retinal periphery.

scholarly journals Genetic Variations of IL-12B, IL-12Rβ1, IL-12Rβ2 in Behcet's Disease and VKH Syndrome

PLoS ONE ◽  
2014 ◽  
Vol 9 (5) ◽  
pp. e98373 ◽  
Author(s):  
Xinyu Li ◽  
Lin Bai ◽  
Jing Fang ◽  
Shengping Hou ◽  
Qingyun Zhou ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Genetic Variations ◽  
Behcet's Disease ◽  
Vkh Syndrome

scholarly journals Hyperhomocysteinaemia in Behçet's Disease

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Amira Hamzaoui ◽  
Olfa Harzallah ◽  
Rim Klii ◽  
Silvia Mahjoub
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Homocysteine Level ◽  
Behçet's Disease ◽  
Negative Control Group ◽  
Negative Control ◽  
Control Group ◽  
Behcet's Disease ◽  
Homocysteine Concentration ◽  
Significant Difference

Objectives. The aim of this study was to investigate if hyperhomocysteinaemia is a contributive risk factor for the pathogenesis and the activity of Behçet's disease (BD).Design and Methods. Fifty four patients fullfiling the criteria of the International Study Group for BD were enrolled. Fifty healthy volunteers matched for age and sex with the BD group were included as a negative control group. Patients, with any condition that might affect plasma homocysteine concentration, were excluded.Results. Mean serum homocysteine concentration was significantly higher in patients with BD than in the healthy controls (), in patients with active disease (), and in masculine gender (). There was no significant difference between homocysteine level and clinical involvement.Conclusions. We demonstrated that plasma total homocysteine level (tHcy) is increased in BD and correlated with disease activity. No association was found between homocysteine levels and clinical involvement.

Infliximab treatment in refractory vascular Behcet’s disease: A single-center experience

Vascular ◽  
2020 ◽  
Vol 28 (6) ◽  
pp. 829-833
Author(s):  
Demet Yalçın Kehribar ◽  
Metin Ozgen
Keyword(s):  
Behçet’S Disease ◽  
Oral Anticoagulant ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Vascular Involvement ◽  
Infliximab Treatment ◽  
Single Center ◽  
Vascular Events ◽  
Behcet's Disease ◽  
Significant Difference

Objective This study aims to investigate the efficacy and reliability of infliximab treatment in Behcet’s disease with vascular involvement. Methods This single-center retrospective study included a total of 18 patients diagnosed with Behcet’s disease with vascular involvement who were initiated infliximab treatment after exhibiting resistance to conventional immunosuppressive treatments. Results Seventeen patients achieved remission with infliximab treatment. While 18 patients were receiving a median of 50 (IQR: 20–61) mg/day equivalent of methylprednisolone before infliximab treatment, after infliximab treatment, only four patients were receiving 4 mg/day equivalent of methylprednisolone ( p < 0.001). Only 4 patients were receiving oral anticoagulant treatment during infliximab treatment, and compared to the patients who were not receiving oral anticoagulants, there was no significant difference between the two groups according to occurrence of new vascular events. Conclusion Infliximab seems to be an effective and reliable treatment in Behcet’s disease with vascular involvement and may also allow reduced dosage or even the discontinuation of corticosteroids. The results of our study suggest that oral anticoagulant use is unnecessary in Behcet’s disease with vascular involvement. However, further long-term randomized controlled studies are needed to investigate the length of infliximab regimen, whether or not it should be discontinued, and if so, whether or not immunosuppressants should be given as maintenance after discontinuation.

Hypermethylation of IL‐10 gene is responsible for its low mRNA expression in Behçet's disease

2018 ◽  
Vol 119 (8) ◽  
pp. 6614-6622 ◽  
Author(s):  
Shahriar Alipour ◽  
Mohammad Nouri ◽  
Alireza Khabbazi ◽  
Nasser Samadi ◽  
Zohreh Babaloo ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Behcet's Disease

Comparison of ultraviolet B-induced cutaneous inflammation and skin pathergy test in Behçet’s disease

2013 ◽  
Vol 8 (2) ◽  
pp. 205-211
Author(s):  
Mehmet Sayarlioglu ◽  
Sevil Kamali ◽  
Ayse Cefle ◽  
Murat Inanc ◽  
Lale Ocal ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Ultraviolet B ◽  
Cutaneous Inflammation ◽  
Behcet's Disease ◽  
Pathergy Test

Single Nucleotide Polymorphisms of FCRL3 in Iranian Patients with Behcet’s Disease

2020 ◽  
Author(s):  
Farhad SHAHRAM ◽  
Javad KAZEMI ◽  
Mahmoud MAHMOUDI ◽  
Zohreh JADALI
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Behcet's Disease ◽  
Significant Difference ◽  
Iranian Patients

Background: Both genetic and environmental factors influence, susceptibility to autoimmune disorders including Behcet’s disease (BD). FCRL3 (Fc receptor like 3 genes), a novel immunoregulatory gene, has recently been reported as a new promising candidate gene for general autoimmunity. This study was conducted to explore the potential association of FCRL3 polymorphisms with BD. Methods: This study was conducted from 2010 to 2015 in Tehran University of Medical Sciences, Tehran, Iran. Four single-nucleotide polymorphisms of FCRL3 (rs7528684, rs11264799, rs945635, and rs3761959) were genotyped in 220 patients and 220 healthy controls. Typing of the polymorphisms in this case-control study was carried out using polymerase chain reaction-restriction fragment length polymorphism analysis. Results: Analysis of the alleles revealed a significantly lower frequency of the A allele at the -169 site (rs7528684) in BD patients compared with that in controls (P=0.000, 66.4% versus 82%, χ2= 30.23). Moreover, a significant lower frequency of AA genotype and higher frequency of GG genotype was recorded for rs7528684. There was also relationship between posterior uveitis as a clinical sign of disease and polymorphism of allele A at the -169 site (P=0.015). Conclusion: This study revealed a significant difference in both allele and genotype frequency at position -169 of FCRL3 gene between Iranian patients with BD and normal subjects. These data suggest FCRL3 gene polymorphisms might be the autoimmunity risk factor for BD.

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