scholarly journals Genetics of Behçet's Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Tamer İrfan Kaya
Keyword(s):  
Behçet’S Disease ◽  
Disease Susceptibility ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Association Studies ◽  
Silk Road ◽  
Inflammatory Disorder ◽  
Genome Wide Association Studies ◽  
Genetic Associations ◽  
Behcet's Disease

Behçet's disease (BD) is a systemic inflammatory disorder characterized mainly by recurrent oral and genital ulcers and eye involvement. Although the pathogenesis remains poorly understood, a variety of studies have demonstrated that genetic predisposition is a major factor in disease susceptibility. Peculiar geographical distribution of BD along the ancient Silk Road has been regarded as evidence supporting genetic influence. The observed aggregation of BD in families of patients with BD is also supportive for a genetic component in its etiology. HLA-B51 (B510101 subtype) is the most strongly associated genetic marker for BD in countries on the Silk Road. In recent years, several genome-wide association studies and genetic polymorphism studies have also found new genetic associations with BD, which may have a supplementary role in disease susceptibility and/or severity. The author reviewed the HLA and non-HLA genetic association studies.

scholarly journals Behcet’s disease (Silk Road disease): a rare inflammatory disease

2021 ◽  
pp. 01-03
Author(s):  
Leya P Babu ◽  
Shaji George ◽  
Johnson V Babu ◽  
Nimmy Robin ◽  
Joicy Jose
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Serum Vitamin ◽  
Silk Road ◽  
The Body ◽  
Tarsal Tunnel ◽  
Inflammatory Disorder ◽  
Vitamin Supplement ◽  
Behcet's Disease

Background: Behcet’s disease (Silk Road disease), a rare immune-mediated multisystem inflammatory disorder described by intermittent oralaphthae and genital ulcer, backsliding uveitis, mucocutaneous, articular, gastrointestinal, neurological and vascular manifestations, with no cure.It is brought about by changes in the: a) arteries that flexibly blood to the body tissues b) veins that return the blood to the lungs, the rear of the eyes retina, brain, joints, skin and bowels. Case Presentation: A 55-year-old male patient was sensed with c/o joint agony in lower appendages, oral ulcer and scrotal ulcer. On physical assessment the patient was cognizant and oriented with B/L lower leg joint emanation. All lab examination including RA factor was within normal limits, with diminished Serum Vitamin D. HLA B51, ANA were checked and oral mucosal biopsy was done. The most punctual sign exhibited was oral disintegration, various shallow ulcer and scarcely any dissolved knobs in the scrotum. At that point the patient gave joint pain and numbness on right leg. On neurological assessment, a strange motor nerve conduction saw with right tibial neuropathy. At first, doubt with syphilis and tarsal tunnel disorder and following 7-8 days of affirmation, analyzed as Behcet's illness dependent on dermatological, rheumatologic and neurological signs. Treatment given was symptomatic and supportive with pain relievers, corticosteroid, antibiotics, IV fluids, PPI, vitamin supplement, laxative and local anaesthetic. Discussion:Without adequate data it's difficult to examine, in light of anomaly and standardized treatment are questionable at present. New information with respect to its immunopathogenesis, genetics will significantly help in the advancement of research center tests, diagnostic criteria and particularly in the decision of the best treatment

scholarly journals Immunopathogenesis of Ocular Behçet’s Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-13 ◽  
Author(s):  
Un Chul Park ◽  
Tae Wan Kim ◽  
Hyeong Gon Yu
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Retinal Vasculitis ◽  
Skin Lesions ◽  
Unknown Etiology ◽  
Ocular Involvement ◽  
Inflammatory Disorder ◽  
General Hypothesis ◽  
Behcet's Disease

Behçet’s disease (BD) is a chronic recurrent systemic inflammatory disorder of unknown etiology characterized by oral and genital ulcerations, skin lesions, and uveitis. The ocular involvement of BD, or Behçet’s uveitis (BU), is characterized by panuveitis or posterior uveitis with occlusive retinal vasculitis and tends to be more recurrent and sight threatening than other endogenous autoimmune uveitides, despite aggressive immunosuppression. Although pathogenesis of BD is unclear, researches have revealed that immunological aberrations may be the cornerstone of BD development. General hypothesis of BD pathogenesis is that inflammatory response is initiated by infectious agents or autoantigens in patients with predisposing genetic factors and perpetuated by both innate and acquired immunity. In addition, a network of immune mediators plays a substantial role in the inflammatory cascade. Recently, we found that the immunopathogenesis of BU is distinct from other autoimmune uveitides regarding intraocular effector cell profiles, maturation markers of dendritic cells, and the cytokine/chemokine environment. In addition, accumulating evidence indicates the involvement of Th17 cells in BD and BU. Recent studies on genetics and biologics therapies in refractory BU also support the immunological association with the pathogenesis of BU. In this review, we provide an overview of novel findings regarding the immunopathogenesis of BU.

scholarly journals Different Methylation of CpG-SNPs in Behcet’s Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Yang Huang ◽  
Handan Tan ◽  
Qingfeng Cao ◽  
Gangxiang Yuan ◽  
Guannan Su ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Genetic Variants ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Association Studies ◽  
Statistical Significance ◽  
Multiple Comparisons ◽  
Healthy Individuals ◽  
Behcet's Disease ◽  
Second Stage

Purpose. We recently performed an Epigenome-Wide Association Studies (EWAS) study in Behcet’s disease (BD) and identified various cytosine–phosphate–guanine (CpG) loci that were aberrantly methylated. In the current study, we wanted to investigate whether these sites contained genetic polymorphisms and whether the frequency of these polymorphisms was altered in BD.Methods. A two-stage study was performed. The first stage involved 358 BD patients and 704 healthy controls to investigate genetic variants of 10 CpG-SNPs (rs10454134, rs176249, rs3808620, rs10176517, rs11247118, rs78016579, rs9461624, rs10492166, rs34929465, and rs6507921) using an iPLEX Gold genotyping assay and a Sequenom MassARRAY. In the second stage, an additional 172 independent BD patients and 330 healthy individuals are to confirm trends found in the first stage.Results. A higher frequency of both the rs10454134 AG genotypes (p = 0.008, OR = 1.413, 95% CI = 1.094-1.826) and a lower GG genotype frequency (p = 0.003, OR = 0.630, 95% CI = 0.465-0.854) were found in BD patients compared to the controls in the first stage. However, after correcting for multiple comparisons, all associations identified in the first stage lost statistical significance. The frequencies of the other CpG-SNPs investigated were not different between BD patients and controls. The second stage was designed using an additional cohort to confirm the association with CpG-SNP, rs10454134. The data failed to confirm the association between this CpG-SNP and BD.Conclusions. This study did not show an association between BD and CpG-SNPs in gene sites that were earlier shown to be aberrantly methylated.

scholarly journals Behçet’s disease leaves the silk road

2014 ◽  
Vol 6 ◽  
pp. 417-420 ◽  
Author(s):  
Anna Woźniacka ◽  
Piotr Jurowski ◽  
Anastazy Omulecki ◽  
Marek Kot ◽  
Bożena Dziankowska-Bartkowiak
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Silk Road ◽  
Behcet's Disease ◽  
The Silk Road

scholarly journals A Darwinian view of Behçet's disease

2021 ◽  
Vol 2 (2) ◽  
pp. 91-99
Author(s):  
Rhodri Smith ◽  
Robert J. Moots ◽  
Mariam Murad ◽  
Graham R. Wallace
Keyword(s):  
Behçet’S Disease ◽  
Complex Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Clinical Findings ◽  
Unknown Etiology ◽  
Inflammatory Disorder ◽  
Protective Mechanisms ◽  
Behcet's Disease ◽  
Cns Lesions

Abstract Behçet’s disease (BD) is a multisystem inflammatory disorder of unknown etiology, characterized by oral and genital ulceration, with other complications including eye, skin, joint, and central nervous system (CNS) lesions. Diagnosis is based on clinical findings, which may differ between patients. There is a strong genetic basis for BD; however, only a few genes have been associated with the disease across the geographical spread of BD. In this article, we discuss the history and combination of genes involved in this complex disease in relation to the geographical range and present our view that the disease has developed from a Darwinian perspective, with different gene polymorphisms that affect the same biological pathway. Moreover, these mutations individually are protective mechanisms against the disease relevant to each region, which affected both archaic and modern humans.

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