Identification of novel genes in Behcet’s disease using integrated bioinformatic analysis

Chen, Si; Li, Haolong; Zhan, Haoting; Zeng, Xiaoli; Yuan, Hui; Li, Yongzhe

doi:10.1007/s12026-022-09270-3

Cited by 5 publications

(3 citation statements)

References 53 publications

(66 reference statements)

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“…The three microarray datasets (GSE61399 (20), GSE17114 ( 21)) and GSE48498 of patients with BS or Kawasaki disease and healthy control samples were collected from the GEO database (https://www.ncbi.nlm. nih.gov/geo/).…”

Section: Study Design and Data Processingmentioning

confidence: 99%

The transcriptional profiling identifies hub genes in immune subsets of patients with Behçet's syndrome

Zou

2022

Clinical and Experimental Rheumatology

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ObjectivesBehçet's syndrome (BS) is a variable vessel vasculitis characterised by heterogeneity of organ manifestations. Antigen-presenting cells, such as macrophages and T cells, play critical roles in their immunopathology. This study aimed to identify hub genes and biological processes in patients with BS. MethodsWe downloaded expression profiles, GSE61399, containing CD14 + monocytes and CD4+T cells between BS and healthy controls from the Gene Expression Omnibus (GEO). We screened the differential expression genes (DEGs) by the GEO2R.The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed. Protein-protein interaction (PPI) network and core genes were analysed by the Search Tool for the Retrieval of Interacting Genes (STRING) and Cytoscape with Molecular Complex Detection (MCODE) plug-in tools. ResultsWe identified 102 DEGs in CD14 + monocytes and 48 in CD4 + T cells. In monocytes, the gene enrichment was mainly involved in type I interferon signaling pathway, defense response to virus, cell chemotaxis, granulocyte chemotaxis, granulocyte migration, leukocyte chemotaxis, and neutrophil chemotaxis. The changed genes in CD4 + cells were enriched in MyD88-dependent toll-like receptor signaling pathway, positive regulation of innate immune response, and IL1B production. In combination with PPI and Markov Cluster Algorithm (MCL), we defined three driving protein-protein modules, IL1B, CCL2, CCL4, CXCL2, CCL20, CXCL3, TLR6, CD83, IFIT3, and THBD as a set of hub genes in CD14 + monocytes, associated with inflammation and thrombosis; CD300LF, CLEC5A, DMXL2, MS4A14, TMEM176A in CD4 + T cells. ConclusionsOur findings provide novel insights into the immune subsets related to the biological process in BS, which could contribute to identifying potential biomarkers and novel treatment strategies for BS.

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Section: Study Design and Data Processingmentioning

confidence: 99%

The transcriptional profiling identifies hub genes in immune subsets of patients with Behçet's syndrome

Zou

2022

Clinical and Experimental Rheumatology

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“…The worldwide prevalence is estimated to be approximately 10.3 cases per 100,000 individuals. Notably, Turkey has the highest reported prevalence, reaching up to 420 cases per 100,000 population [4][5][6]. Vascular involvement in Behcet syndrome is distinctive as it affects both the arterial and venous vascular systems of various calibers, making it a significant contributor to morbidity and mortality in affected individuals [7].…”

Section: Introductionmentioning

confidence: 99%

Inferior Vena Cava Thrombosis and Pulmonary Embolism in a Patient With Behcet Disease: A Rare Presentation

Mushtaq,

Ali Khan,

Khan

et al. 2023

Cureus

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Behcet syndrome is a systemic vasculitic syndrome. Vascular involvement in Behcet syndrome affects both arterial and venous vascular systems, contributing to significant morbidity and mortality. However, diagnosing vascular lesions can be challenging due to their resemblance to common vascular diseases, leading to potential misdiagnoses. This case report emphasizes the importance of recognizing atypical manifestations of this disease to ensure a prompt and accurate diagnosis. This case report describes a unique presentation of Behcet syndrome in a 23-year-old male patient who presented with per rectal bleeding, abdominal distension, right quadrant abdominal pain, pleuritic chest pain, and fever. The patient also reported a history of recurrent oral and genital ulcers, skin lesions, and a previous episode of dural venous sinus thrombosis. Extensive investigations revealed the involvement of the inferior vena cava and right hepatic vein, representing an atypical vascular manifestation of Behcet syndrome. Prompt diagnosis by a multidisciplinary team led to appropriate treatment with cyclophosphamide and steroids, resulting in the resolution of vascular thrombosis. In this particular case, the patient presented with involvement of the inferior vena cava and right hepatic vein, a rare and unusual manifestation of the disease. This case highlights the diverse nature of vascular complications in Behcet syndrome and underscores the importance of considering this diagnosis in patients with unexplained vascular abnormalities. Overall, this case report highlights the importance of considering Behcet syndrome in the differential diagnosis of patients with unexplained vascular manifestations. It also emphasizes the need for a comprehensive clinical evaluation and collaborative approach to ensure timely and effective management.

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“…Although BD is prevalent worldwide, it is more common in the Middle East, the Mediterranean, and the Far East regions along the ancient Silk Road, resulting in its colloquial name as a "Silk Road disease." The prevalence of BD is suspected 10.3/100000 worldwide and 14/100000 in China, while Turkey has the highest known prevalence globally with up to 420/100000 (2)(3)(4). The average age of BD onset is 35 years, and both sexes are equally affected, although young men experience more severe complications (5).…”

Section: Introductionmentioning

confidence: 99%

Case report and analysis: Behçet’s disease with lower extremity vein thrombosis and pseudoaneurysm

Wang

Zhang

et al. 2022

Front. Immunol.

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BackgroundBehçet’s disease (BD) is a unique autoimmune chronic systemic vasculitis that affects veins and arteries of all sizes. BD can lead to recurrent vascular events, especially venous thrombosis, with an incidence rate of 40%, or pseudoaneurysms formed under long-term inflammatory reaction or iatrogenic stimulation. BD-related risk factors promote endothelial dysfunction, platelet activation and overactivation of tissue factors leading to mural inflammatory thrombi. Thrombosis may be the first clinical manifestation of BD.Case presentationA 32-year-old man complaining of progressive swelling and pain in the right lower extremity for 30 days was initially diagnosed with “venous thrombosis of the right lower extremity,” using color Doppler ultrasonography. Patient underwent inferior vena cava filter placement combined with deep vein angioplasty of the right lower extremity and catheter-directed urokinase thrombolysis. Postoperative oral anticoagulant therapy was administered. However, the patient was readmitted 20 days later for pulsatile pain in the right groin. Prior medical history included 4 years of repeated oral and perineal ulcers, and 2 months of blurred vision. Abdominal computed tomography angiography (CTA) revealed rupture of the right common iliac artery (CIA) and left internal iliac artery (IIA), complicated by a pseudoaneurysm. Based on the clinical manifestations and other auxiliary examination results, the patient was re-diagnosed with “BD combined with deep venous thrombosis of the right lower extremity and an iliac artery pseudoaneurysm.” Stent implantation was performed for iliac artery pseudoaneurysm after symptoms were controlled with timely immunosuppressive therapy. After endovascular treatment, the patient underwent continued immunosuppressive therapy and dynamic reexaminations of abdominal CTA, which revealed that a small amount of contrast agent at the stent in the right CIA continued to flow into the cavity of the pseudoaneurysm; in addition, the size of the pseudoaneurysm was gradually increasing. Therefore, the patient underwent a second stent implantation for iliac artery pseudoaneurysm, and the condition improved further.ConclusionThe importance of early diagnosis of BD should be recognized, and the choice of interventional and surgical procedures should be carefully evaluated, as this may trigger further damage to vascular access in BD patients with aneurysm.

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Identification of novel genes in Behcet’s disease using integrated bioinformatic analysis

Cited by 5 publications

References 53 publications

The transcriptional profiling identifies hub genes in immune subsets of patients with Behçet's syndrome

The transcriptional profiling identifies hub genes in immune subsets of patients with Behçet's syndrome

Inferior Vena Cava Thrombosis and Pulmonary Embolism in a Patient With Behcet Disease: A Rare Presentation

Case report and analysis: Behçet’s disease with lower extremity vein thrombosis and pseudoaneurysm

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