keyword
MENU ▼
Read by QxMD icon Read
search

behcet genetics

keyword
https://www.readbyqxmd.com/read/28706259/genetic-polymorphisms-of-c-type-lectin-receptors-in-behcet-s-disease-in-a-chinese-han-population
#1
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
#2
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
https://www.readbyqxmd.com/read/28693405/genetics-and-immunodysfunction-underlying-beh%C3%A3-et-s-disease-and-immunomodulant-treatment-approaches
#3
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
https://www.readbyqxmd.com/read/28651467/erap1-and-hla-c-interaction-in-inflammatory-bowel-disease-in-the-spanish-population
#4
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
https://www.readbyqxmd.com/read/28589131/the-association-of-chemokine-gene-polymorphisms-with-vkh-and-behcet-s-disease-in-a-chinese-han-population
#5
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
https://www.readbyqxmd.com/read/28582318/recent-advances-in-childhood-vasculitis
#6
Seza Ozen, Nazire Pinar Acar-Ozen
PURPOSE OF REVIEW: The review aims to summarize the recent findings in vasculitis that may have an impact in our understanding or management of these diseases. RECENT FINDINGS: We are learning more about monogenic diseases that closely mimic the pediatric vasculitides. Deficiency of adenosine deaminase 2 can present with a polyarteritis nodosa (PAN)-like picture and should be included in the differential of all pediatric cases of PAN with a family history or in cases with early stroke, or in cases resistant to conventional therapy...
September 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28529705/case-report-beh%C3%A3-et-s-disease-accompanied-with-vitiligo
#7
Ragıp Ertaş, Kemal Özyurt, Atıl Avcı, Sule Ketenci Ertas, Mustafa Atasoy
Recently, a few case reports and clinical studies have been published that explore the association of Behçet's Disease (BD) and vitiligo, with conflicting results. Genetic and immunological properties of BD and presence of autoantibodies support autoimmunity, but clinical features suggest autoinflammatory diseases. BD is thought to be a cornerstone between autoimmune and autoinflammatory diseases. On the other hand, vitiligo has been accepted as an autoimmune disease with associations of other autoimmune disorders and there is a possible role of autoimmunity in pathogenesis of the disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28427473/intestinal-beh%C3%A3-et-and-crohn-s-disease-two-sides-of-the-same-coin
#8
REVIEW
Simona Valenti, Romina Gallizzi, Dominique De Vivo, Claudio Romano
Behçet's disease (BD) and Crohn's disease (CD) are chronic immune-mediated, inflammatory disorders affecting many different systems (joints, skin, eyes, gastrointestinal and biliary tracts). Both disorders have fluctuating courses and when gastrointestinal symptoms are prevalent, differential diagnosis can be difficult. BD involves the gastrointestinal tract in 10-15% of cases with localized lesions in the ileocecal region. The clinical picture is heterogeneous with various clusters of disease expression. CD is a chronic inflammatory disorder, which can affect any part of the intestinal tract, as well as extra-intestinal tissue...
April 20, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28283043/birmingham-beh%C3%A3-et-s-service-classification-of-disease-and-application-of-the-2014-international-criteria-for-beh%C3%A3-et-s-disease-icbd-to-a-uk-cohort
#9
Tim Blake, Luke Pickup, David Carruthers, Erika Marie Damato, Alastair Denniston, John Hamburger, Claire Maxton, Debbie Mitton, Philip I Murray, Peter Nightingale, Ana Poveda-Gallego, Andrea Richards, Andrew Whallett, Deva Situnayake
BACKGROUND: This study reports on the analysis of the application and diagnostic predictability of the revised 2014 ICBD criteria in an unselected cohort of UK patients, and the ensuing organ associations and patterns of disease. METHODS: A retrospective cohort study was conducted using a database of electronic medical records. Three categories were recognised: clinically defined BD, incomplete BD and rejected diagnoses of BD. We applied the ISG 1990 and ICBD 2014 classification criteria to these subgroups to validate diagnostic accuracy against the multidisciplinary assessment...
March 11, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28250463/vasculitis-syndromes-shared-genetic-risk-for-beh%C3%A3-et-disease-and-crohn-s-disease
#10
Jessica McHugh
No abstract text is available yet for this article.
April 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28148585/behcet-s-disease
#11
Jagdish R Nair, Robert J Moots
Behçet's disease (BD) is a chronic relapsing and remitting vasculitis of unknown aetiology. It has the capacity to affect almost all organ systems because of its potential to involve both arteries and veins of all sizes, resulting in significant organ-threatening morbidity and mortality. Traditionally known as the 'silk road' disease, it has a worldwide occurrence. The aetiopathological mechanisms of disease development in BD remain poorly understood, but genome wide studies show human leukocyte antigen and non-human leukocyte antigen associations...
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28115215/damaging-heterozygous-mutations-in-nfkb1-lead-to-diverse-immunologic-phenotypes
#12
Meri Kaustio, Emma Haapaniemi, Helka Göös, Timo Hautala, Giljun Park, Jaana Syrjänen, Elisabet Einarsdottir, Biswajyoti Sahu, Sanna Kilpinen, Samuli Rounioja, Christopher L Fogarty, Virpi Glumoff, Petri Kulmala, Shintaro Katayama, Fitsum Tamene, Luca Trotta, Ekaterina Morgunova, Kaarel Krjutškov, Katariina Nurmi, Kari Eklund, Anssi Lagerstedt, Merja Helminen, Timi Martelius, Satu Mustjoki, Jussi Taipale, Janna Saarela, Juha Kere, Markku Varjosalo, Mikko Seppänen
BACKGROUND: The nuclear factor κ light-chain enhancer of activated B cells (NF-κB) signaling pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB pathway genes cause immunodeficiency. OBJECTIVE: We sought to identify the cause of disease in 3 unrelated Finnish kindreds with variable symptoms of immunodeficiency and autoinflammation. METHODS: We applied genetic linkage analysis and next-generation sequencing and functional analyses of NFKB1 and its mutated alleles...
January 21, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28045058/identification-of-genetic-susceptibility-loci-for-intestinal-beh%C3%A3-et-s-disease
#13
Seung Won Kim, Yoon Suk Jung, Jae Bum Ahn, Eun-Soon Shin, Hui Won Jang, Hyun Jung Lee, Tae Il Kim, Do Young Kim, Dongsik Bang, Won Ho Kim, Jae Hee Cheon
Several recent genome-wide association studies (GWAS) identified susceptibility loci/genes for Behçet's disease (BD). However, no study has specifically investigated the genetic susceptibility loci associated with intestinal involvement in BD. We aimed to identify distinctive genetic susceptibility loci/genes associated with intestinal involvement in BD and determine their roles in intestinal inflammation as well as their interactions with genes involved in inflammatory bowel disease (IBD). GWAS and validation studies showed intestinal BD-specific associations with an NAALADL2 gene locus (rs3914501, P = 3...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28031553/genetic-origin-of-beh%C3%A3-et-s-disease-population-in-denizli-turkey-population-genetics-data-analysis-historical-demography-and-geographical-perspectives-based-on-%C3%AE-globin-gene-cluster-haplotype-variation
#14
COMPARATIVE STUDY
O Ozturk, S Arikan, A Bahadir, A Atalay, E O Atalay
In our study, we aimed to investigate the possible genetic drift, relationships, expansion and historical origin based on haplotype frequencies of the β-globin gene cluster of normal and Behçet's disease (BD) population in Denizli, Turkey. We examined blood DNA samples obtained from our DNA bank. The association of population genetic parameters such as haplotypes, diversity, differentiation, Hardy-Weinberg equilibrium and demographic analysis for two populations was performed by Arlequin ver. 3.5. Our results show that both populations have high similarity in genetic parameters in terms of development and expansion based on haplotype diversity through the history...
January 2017: Genes and Immunity
https://www.readbyqxmd.com/read/27966293/beh%C3%A3-et-syndrome-the-vascular-cluster
#15
Hasan Yazıcı, Emire Seyahi
Although skin-mucosa lesions are common in almost all patients with Behçet syndrome (BS), clinical properties may differ from one patient to another. Within BS, there are subsets with different organ involvement and hence probably different pathological pathways. These subsets can be described as a) solo skin-mucosa disease with no major organ involvement, b) eye disease, c) seronegative spondyloarthropathy-like disease (arthritis, enthesopathy, and folliculitis), d) Crohn-like disease, and finally the topic of this chapter: e) vascular disease...
November 17, 2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27875029/decreased-activity-and-genetic-polymorphisms-of-cyp2c19-in-beh%C3%A3-et-s-disease
#16
Mustafa Tugrul Goktas, R Ozgur Karaca, Said Kalkisim, Lokman Cevik, Levent Kilic, Ali Akdogan, Melih O Babaoglu, Atilla Bozkurt, Leif Bertilsson, Umit Yasar
Behçet's disease (BD) is a systemic autoimmune disorder. Cytochrome P450 enzymes (CYPs) are responsible for various drug metabolism reactions as well as those of endogenous substances which may be associated with autoimmune disease susceptibility. Recently, we reported that in patients with BD, CYP2C9 seems to be down-regulated due to inflammation. In the same Turkish BD patients, we investigated whether also CYP2C19 activity is decreased. Lansoprazole (30 mg) was given as a probe drug to evaluate CYP2C19 activity in 59 patients with BD and 27 healthy control volunteers...
November 22, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27791958/one-year-in-review-2016-beh%C3%A3-et-s-syndrome
#17
REVIEW
Gulen Hatemi, Emire Seyahi, Izzet Fresko, Rosaria Talarico, Vedat Hamuryudan
Several articles highlighting the epidemiology, pathogenesis, clinical features, treatment modalities and disease assessment of Behçet's syndrome (BS) have been published during the last year. Clinical and radiological features of lower extremity deep vein thrombosis due to BS can be quite different than those found in thrombosis due to other causes; additionally, frequency of post-thrombotic syndrome is significantly increased in BS. Some clinical and colonoscopic features are useful in differentiating BS from Crohn's disease...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27776949/beh%C3%A3-et-s-disease%C3%A2-and-fmf-two-sides-of-the-same-coin-or-just-an-association-a-cross-sectional-study%C3%A2
#18
Abdulla Watad, Shmuel Tiosano, Dana Yahav, Doron Comaneshter, Yehuda Shoenfeld, Arnon D Cohen, Howard Amital
BACKGROUND: Familial Mediterranean fever (FMF) is a genetic disease, characterized by attacks of fever, arthritis, serositis and pain. Behçet's disease (BD) is an inflammatory disorder with a genetic basis, characterized by oral and genital ulcers, uveitis, pustular erythematous cutaneous lesions, arthritis, central nervous system involvement and possible vascular manifestations such as venous thrombosis, arteritis and aneurysms. OBJECTIVES: To investigate the association and actual differentiation between these two entities in a large-scale population-based study...
October 21, 2016: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/27775096/genetic-analysis-of-innate-immunity-in-behcet-s-disease-identifies-an-association-with-il-37-and-il-18rap
#19
Handan Tan, Bolin Deng, Hongsong Yu, Yi Yang, Lin Ding, Qi Zhang, Jieying Qin, Aize Kijlstra, Rui Chen, Peizeng Yang
Interleukin-1 (IL-1) and the IL-1 receptor (IL-1R) family play an important role in the pathogenesis of inflammatory diseases. This study aimed to investigate the association between single nucleotide polymorphisms (SNP) of IL-1 and IL-1R family genes with Vogt-Koyanagi-Harada (VKH) and Behcet's disease (BD) in Han Chinese. The case-control study was divided into two stages and included 419 VKH cases, 1063 BD cases and 1872 healthy controls. The MassARRAY platform (Sequenom), iPLEX Gold Assay and TaqMan SNP assays were used to score genotypes of 24 SNPs...
October 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27660198/pd-1-pd-l-and-autoimmunity-a-growing-relationship
#20
REVIEW
Mohammad Reza Zamani, Saeed Aslani, Arash Salmaninejad, Mohammad Reza Javan, Nima Rezaei
Programmed death 1 (PD-1) and its ligands, namely PD-L1 and PD-L2, are one of the key factors responsible for inhibitory T cell signaling, mediating the mechanisms of tolerance and providing immune homeostasis. Mounting evidence demonstrates that impaired PD-1:PD-L function plays an important role in a variety of autoimmune diseases such as Type 1 diabetes (T1D), encephalomyelitis, inflammatory bowel diseases (IBD), Rheumatoid Arthritis (RA), autoimmune hepatitis (AIH), Behcet's disease (BD), myasthenia gravis (MG), autoimmune uveitis (AU), Sjögren's syndrome (SjS), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), myocarditis, and ankylosing spondylitis (AS)...
December 2016: Cellular Immunology
keyword
keyword
2793
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"