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behcet genetics

Qi Zhang, Hua Li, Shengping Hou, Hongsong Yu, Guannan Su, Bolin Deng, Jian Qi, Chunjiang Zhou, Aize Kijlstra, Peizeng Yang
BACKGROUND: Protein 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...
March 3, 2018: British Journal of Ophthalmology
Maria Zerkaoui, Fatima Zahra Laarabi, Yousra Ajhoun, Bouchra Chkirate, Abdelaziz Sefiani
BACKGROUND: Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene...
March 1, 2018: Journal of Medical Case Reports
Yingying Yue, Jun Zhang, Lu Yang, Shengyun Liu, Jian Qi, Qingfeng Cao, Chunjiang Zhou, Yao Wang, Aize Kijlstra, Peizeng Yang, Shengping Hou
Purpose: Long noncoding RNAs (lncRNAs) are emerging as important regulators of inflammatory immune responses, whereby genetic variants may affect this biologic function. This study aimed to investigate the association of 110 single nucleotide polymorphisms (SNPs) of lncRNAs, known to be associated with autoimmune disease, in patients with ocular Vogt-Koyanagi-Harada (VKH) disease, Behcet's disease (BD), and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS). Methods: A two-stage case-control study was performed on 1626 VKH patients, 384 BD patients, 624 AAU with AS, 751 AAU without AS, 720 AS without AAU, and 3305 healthy subjects...
February 1, 2018: Investigative Ophthalmology & Visual Science
Zhenhua Zhu, Xu Shu, Shunhua Long, Xiaozhen Jiang, Nonghua Lu, Xuan Zhu, Wangdi Liao
RATIONALE: Intestinal Behçet disease (intestinal BD) and inflammatory bowel disease (IBD) share a lot of characteristics, including genetic background, clinical manifestations, and therapeutic strategies, especially the extraintestinal manifestations, such as oral ulcers, arthralgia, eye lesions, skin lesions, etc, but the coexistence of these 2 diseases are uncommon. Behçet disease with gastrointestinal involvement in ulcerative colitis (UC) patient has been reported in just 1 previous case report, but, which can not be diagnosed as definite intestinal BD based on Korean novel diagnositic criteria due to lacking the typical ileocecal ulcer...
February 2018: Medicine (Baltimore)
Zahra Mirfeizi, Samira Tabaei, Yalda Ravanshad, Kamila Hashemzadeh, Elahe Kharazmi, Hassan Mehrad-Majd
BACKGROUND: The vitamin D receptor (VDR) gene polymorphisms have been reported to be related to the development of Behcet's disease (BD). However, the results have been inconsistent among diverse populations. Therefore, this comprehensive meta-analysis has been designed to assess a more accurate association between VDR polymorphisms and BD susceptibility. METHODS: An electronic literature search was conducted to identify eligible studies. Pooled odds ratios (OR) with corresponding 95% confidence interval (CI) were calculated in different genetic models to assess this association...
February 1, 2018: Immunological Investigations
Elizabeth Gensterblum-Miller, Weisheng Wu, Amr H Sawalha
The MHC region encodes HLA genes and is the most complex region in the human genome. The extensively polymorphic nature of the HLA hinders accurate localization and functional assessment of disease risk loci within this region. Using targeted capture sequencing and constructing individualized genomes for transcriptome alignment, we identified 908 novel transcripts within the human MHC region. These include 593 novel isoforms of known genes, 137 antisense strand RNAs, 119 novel long intergenic noncoding RNAs, and 5 transcripts of 3 novel putative protein-coding human endogenous retrovirus genes...
January 8, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
Songül Çildağ, Yasemin Kara, Taşkın Şentürk
Objective: Various genetic and environmental risk factors have been shown to be associated with the incidence of rheumatic diseases. However, the pathogenesis of rheumatic diseases poorly understood. Several studies have shown associations of ABO blood groups with various diseases. Our study aimed to determine whether there is an association between the types of rheumatic diseases and ABO and Rh blood groups. Material and Methods: The study included the patients, followed up at the Immunology-Rheumatology clinic between January 2016 and December 2016 for diagnosis of rheumatic disease, who had an ABO Rh blood data...
December 2017: European Journal of Rheumatology
Hasan Yazici, Emire Seyahi, Gulen Hatemi, Yusuf Yazici
The presence of symptom clusters, regional differences in disease expression and similarities with, for example, Crohn's disease suggest multiple pathological pathways are involved in Behçet syndrome. These features also make formulating disease criteria difficult. Genetic studies have identified HLA-B*51 to be the important genetic risk factor. However, the low prevalence of HLA-B*51 in many patients with bone fide disease, especially in non-endemic regions, suggests other factors must also be operative in Behçet syndrome...
January 3, 2018: Nature Reviews. Rheumatology
Nazım Kankilic, Aydın Aslan, Oguz Karahan, Sinan Demirtas, Ahmet Caliskan, Celal Yavuz
Objectives Behcet's disease is a multisystemic, inflammatory disease. Various factors have been implicated in the disease, including genetics, infections, immunoglobulins, immune complexes, antibodies, and oxidative stress. However, the underlying etiopathogenesis remains unclear. Behcet's disease can occur with or without vascular involvement. This prospective study investigated the relationship between the intima-media thickness of the major arteries, in addition to other factors affecting the disease process, in Behcet's disease without vascular involvement...
January 1, 2017: Vascular
Meletios A Kanakis, Aristeides G Vaiopoulos, George A Vaiopoulos, Phaedon G Kaklamanis
 Behçet's disease is a chronic, recurrent, inflammatory disorder characterized by orogenital ulcers and skin lesions; serious manifestations also include ocular, large vessel, gastrointestinal and neurological involvement. Genetic and unknown environmental factors modify the wide clinical spectrum of the disease. During the long clinical course of the disease, testicular and epididymal involvement has been reported, with scrotal pain and swelling being the most common symptoms. In this review, we discuss the various aspects of epididymo-orchitis in Behcet's disease patients, and we evaluate the diagnostic approaches as well as the empirical therapeutic modalities of this entity...
August 2017: Acta Medica Iranica
Gulen Hatemi, Emire Seyahi, Izzet Fresko, Rosaria Talarico, Vedat Hamuryudan
A meta-analysis showed that methodological differences in prevalence studies such as a sample survey design or census design may be responsible for some of the variance in BS prevalence reported across countries, in addition to a true geographic variation. Efforts towards developing a data driven core set of outcome measures for clinical trials is continuing. Multimodal imaging using color fundus photography, fluorescein angiography, and optical coherence tomography is essential in visualising diagnostic features, detecting structural changes, and monitoring disease activity and response to treatment in Behçet's uveitis...
November 2017: Clinical and Experimental Rheumatology
Minseok Lee, Jimyung Seo, Dongsik Bang, Do Young Kim
BACKGROUND: Thiopurine S-methyltransferase (TPMT) is an important enzyme in the metabolism of thiopurines including azathioprine (AZA), 6-mercaptopurine, and 6-thioguanine. TPMT genotyping is widely used for screening of AZA-related toxicity during routine clinical practice in Korea. However, the data of TPMT genotypes and its AZA-related toxicity have not been studied in the field of dermatology. OBJECTIVE: The aim of this study was to evaluate the genetic basis of TPMT polymorphism in Korean dermatologic patients and subsequently to investigate the relationship between mutant TPMT and adverse responses to AZA treatment...
October 2017: Annals of Dermatology
Maria Antonieta Rios Scherrer, Vanessa Barreto Rocha, Lucas Campos Garcia
Behçet's disease is a systemic vasculitis characterized by attacks of acute inflammation, which can affect almost every vascularized area of the body. There is a close correlation between the geographical distribution of HLA-B51 and its prevalence. In the etiopathogenesis there are indications of genetic susceptibility associated with environmental influence. Among the involved genes are those that encompass innate and adaptive immunities. Polymorphisms and epistatic interactions in several genes are described, as well as the presence of imbalance lineage between HLA-B51 and A (MICA)...
July 2017: Anais Brasileiros de Dermatologia
Isil Bulur, Meltem Onder
Behçet disease is currently considered an "autoinflammatory disease" triggered by infection and environmental factors in genetically predisposed individuals. Although the disease is characterized by recurrent oral and genital aphthous ulcers and ocular involvement, it can affect multiple organ systems. Complex aphthosis is characterized by recurrent oral and/or genital aphthous ulcers. It is important to evaluate the patient with complex aphthosis for Behçet disease and related systemic disorders...
September 2017: Clinics in Dermatology
S Lule, A I Colpak, B Balci-Peynircioglu, Y Gursoy-Ozdemir, S Peker, U Kalyoncu, A Can, N Tekin, D Demiralp, T Dalkara
Autoimmune and dysimmune inflammatory mechanisms on a genetically susceptible background are implicated in the etiology of Behçet's Disease (BD). Heat-shock protein-65 (HSP-65) derived from Streptococcus sanguinis was proposed as a triggering factor based on its homology with human HSP-60. However, none of the autoantigens identified so far in sera from BD share common epitopes with bacterial HSP-65 or has a high prevalence. Here, we report that sera from BD patients are immunoreactive against filamentous neuronal processes in the mouse brain, retina and scrotal skin in great majority of patients...
August 24, 2017: Journal of Autoimmunity
Yi Yang, Handan Tan, Bolin Deng, Hongsong Yu, Guannan Su, Jiayue Hu, Qingfeng Cao, Gangxiang Yuan, Aize Kijlstra, Peizeng Yang
C-type lectin receptors (CLRs) have been demonstrated to be involved in several autoimmune diseases. The role of CLRs in Behcet's disease (BD) is unknown and thus was the purpose of this study. A two-stage association study was carried out and a total of 766 BD patients and 1674 healthy controls were recruited. Genotyping of 14 SNPs of 13 genes in CLRs was carried out by iPLEX Gold genotyping or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The expression of mannose binding lectin 2 (MBL2) and killer cell lectin like receptor C4 (KLRC4) was measured by Real-time PCR...
July 13, 2017: Scientific Reports
Aydin Rustemoglu, Esra Erkol Inal, Ahmet Inanir, Duygu Ekinci, Ulker Gul, Serbulent Yigit, Omer Ates, Nevin Karakus
Behçet's disease (BD) is an autoimmune multisystemic disease. The precise etiology of BD is not fully understood; however, it is thought that interactions between genetic and environmental factors play an essential role in its pathogenesis. The nuclear receptor coactivator-5 (NCOA5) gene encodes a coregulator for nuclear receptor subfamily 1 group D member 2 (NR1D2) and estrogen receptor 1 and 2 (ESR1 and ESR2). Also, the NCOA5 gene insufficiency leads to an elevated expression of IL-6, and increased levels of IL-6 were found to be related to the pathogenesis of BD...
2017: EXCLI Journal
Arash Salmaninejad, Arezoo Gowhari, Seyedmojtaba Hosseini, Saeed Aslani, Meysam Yousefi, Tayyeb Bahrami, Masoume Ebrahimi, Abolfazl Nesaei, Masoud Zal
Behçet's disease (BD) is a chronic autoimmune condition primarily prevalent in populations along the Mediterranean Sea. The exact etiology of BD has not been fully explained yet, but the disease occurrence is associated with a genetic factor, human leukocyte antigen (HLA)-B51 antigen. Among the various immunodysfunctions that are found in BD, patients are increased neutrophil motility and superoxide production, as well as elevated production of tumor necrosis factor (TNF)-α and decreased production of interleukin (IL)-10...
December 2017: Journal of Immunotoxicology
Patricia Castro-Santos, Marco Antonio Moro-García, Raquel Marcos-Fernández, Rebeca Alonso-Arias, Roberto Díaz-Peña
Large genome-wide analysis studies (GWAS) and meta-analyses have dramatically increased our knowledge of the genetic risk factors of inflammatory bowel disease (IBD), identifying at least 163 loci. The endoplasmic reticulum aminopeptidase-2 ( ERAP2) gene has been reported as a potential candidate gene for IBD. GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet's disease...
January 1, 2017: Innate Immunity
Yang Huang, Hongsong Yu, Qingfeng Cao, Jing Deng, Xinyue Huang, Aize Kijlstra, Peizeng Yang
To investigate the association of chemokine gene polymorphisms and Behcet's disease (BD) and Vogt Koyanagi Harada (VKH) disease in a Chinese Han population. A case-control study was performed. Three hundred and seventy-one BD patients, 371 VKH disease patients, and 605 healthy controls were recruited to determine genetic variants of 26 SNPs in 12 chemokine genes with iPLEX Gold genotyping assay and Sequenom MassARRAY or TaqMan SNP assays. In this study, Puncorr values showed a weak association of five SNPs of five genes in BD and three SNPs of three genes in VKH disease...
2017: BioMed Research International
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