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behcet genetics

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https://www.readbyqxmd.com/read/29779484/genetics-and-epigenetics-pathogenesis-of-beh%C3%A3-et-s-syndrome
#1
Jibran Sualeh Muhammad, Muhammad Ishaq, Khalid Ahmed
Behçet's syndrome (BS) is characterized numerous systemic manifestations, is known for its ability to affect both, arteries and the veins. However, the etiology of BS is only partially understood, and previous studies have demonstrated a role of genetic and epigenetic factors contributes to disease pathophysiology. Several studies have implicated the T cells and monocytes, especially when stimulated by seat shock proteins and streptococcal antigen. Furthermore, during disease exacerbations adenosine deaminase has an important role in lymphocyte proliferation, maturation, and differentiation, is activated in Behçet's syndrome...
May 20, 2018: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/29623390/the-role-of-genetics-and-epigenetics-in-rheumatic-diseases-are-they-really-a-target-to-be-aimed-at
#2
REVIEW
Masaru Kato, Shinsuke Yasuda, Tatsuya Atsumi
To date, numerous genetic and epigenetic studies have been performed and provided a crucial step forward in our understanding of the pathogenesis of rheumatic diseases. However, most of the recent advances in the treatment of rheumatic diseases including biological therapies are not based on or even discrepant from these genetic and epigenetic findings. For example, tumor necrosis factor inhibitors are quite successful in the treatment of rheumatoid arthritis (RA), Behçet's disease (BD), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) but not in that of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), Sjögren's syndrome (SS) and antineutrophil cytoplasmic antibody-associated vasculitis (AAV), conversely, RA shares genetic backgrounds more with SLE, SSc, SS and AAV than BD, AS and PsA...
April 5, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29555961/analysis-of-the-association-between-fc-receptor-family-gene-polymorphisms-and-ocular-beh%C3%A3-et-s-disease-in-han-chinese
#3
Donglei Zhang, Jieying Qin, Lin Li, Guannan Su, Guo Huang, Qingfeng Cao, Aize Kijlstra, Peizeng Yang
Fc receptors are known to have a pivotal role in the initiation and regulation of many immunological and inflammatory processes. This study aimed to investigate the association of Fc receptor family gene polymorphisms with ocular Behçet's disease (BD) in Han Chinese. A two stage case-control study was performed in 1022 BD cases and 1803 healthy controls. Twenty-three SNPs were genotyped using the MassARRAY system (Sequenom), TaqMan SNP Genotyping Assay and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method...
March 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29502070/association-of-genetic-variations-in-ptpn2-and-cd122-with-ocular-behcet-s-disease
#4
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
https://www.readbyqxmd.com/read/29490685/a-novel-single-variant-in-the-mefv-gene-causing-mediterranean-fever-and-beh%C3%A3-et-s-disease-a-case-report
#5
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
https://www.readbyqxmd.com/read/29490353/association-of-long-noncoding-rnas-polymorphisms-with-ankylosing-spondylitis-vogt-koyanagi-harada-disease-and-behcet-s-disease
#6
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
https://www.readbyqxmd.com/read/29443756/ulcerative-colitis-followed-by-the-development-of-typical-intestinal-beh%C3%A3-et-disease-a-case-report
#7
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)
https://www.readbyqxmd.com/read/29388852/associations-between-vitamin-d-receptor-polymorphisms-and-susceptibility-to-behcet-s-disease-a-meta-analysis
#8
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...
May 2018: Immunological Investigations
https://www.readbyqxmd.com/read/29311362/novel-transcriptional-activity-and-extensive-allelic-imbalance-in-the-human-mhc-region
#9
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...
February 15, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29308278/abo-blood-groups-and-rheumatic-diseases
#10
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
https://www.readbyqxmd.com/read/29296024/beh%C3%A3-et-syndrome-a-contemporary-view
#11
REVIEW
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...
February 2018: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29182089/investigation-of-the-arterial-intima-media-thickness-in-behcet-s-disease-patients-without-vascular-complaints
#12
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
https://www.readbyqxmd.com/read/29034643/epididymo-orchitis-in-bechet-s-disease-a-review-of-the-wide-spectrum-of-the-disease
#13
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
https://www.readbyqxmd.com/read/28980900/one-year-in-review-2017-beh%C3%A3-et-s-syndrome
#14
REVIEW
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
https://www.readbyqxmd.com/read/28966507/thiopurine-s-methyltransferase-polymorphisms-in-korean-dermatologic-patients
#15
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
https://www.readbyqxmd.com/read/28954091/beh%C3%A3-et-s-disease-review-with-emphasis-on-dermatological-aspects
#16
REVIEW
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
https://www.readbyqxmd.com/read/28916023/beh%C3%A3-et-disease-new-aspects
#17
REVIEW
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
https://www.readbyqxmd.com/read/28844827/beh%C3%A3-et-disease-serum-is-immunoreactive-to-neurofilament-medium-which-share-common-epitopes-to-bacterial-hsp-65-a-putative-trigger
#18
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
https://www.readbyqxmd.com/read/28706259/genetic-polymorphisms-of-c-type-lectin-receptors-in-behcet-s-disease-in-a-chinese-han-population
#19
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
https://www.readbyqxmd.com/read/28694762/clinical-significance-of-ncoa5-gene-rs2903908-polymorphism-in-beh%C3%A3-et-s-disease
#20
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
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