scholarly journals Genetic Association of HLA-A*26, -A*31, and -B*51 with Behcet's Disease in Saudi Patients

2016 ◽  
Vol 9 ◽  
pp. CMAMD.S39879 ◽  
Author(s):  
Fahda Al-Okaily ◽  
Seham Al-Rashidi ◽  
Maysoon Al-Balawi ◽  
MD. Mustafa ◽  
Misbahul Arfin ◽  
...  

Background HLA-B*51 has been universally associated with Behcet's disease (BD) susceptibility, while different alleles of HLA-A have also been identified as independent BD susceptibility loci in various ethnic populations. The objective of this study was to investigate associations of HLA-A and - B alleles with BD in Saudi patients. Materials and Methods Genotyping for HLA-A and HLA-B was performed using HLA genotyping kit (Lab type(R) SSO) in 120 Saudi subjects, including 60 BD patients and 60 matched healthy controls. Results Our results revealed that frequencies of HLA-A*26, -A*31, and - B*51 were significantly higher in BD patients than in controls, suggesting that HLA-A*26, -A*31, and - B*51 are associated with BD. The frequency of HLA-B*15 was significantly lower in BD patients than in controls. Stratification of genotyping results into active and nonactive forms of BD revealed that the frequency of HLA-A*31 was significantly higher in the nonactive form than in the active form of BD, while there was no significant difference in the distribution of other alleles between the two forms of BD. Conclusion This study suggests that HLA-A*26, -A*31, and - B*51 are associated with susceptibility risk to BD, while HLA-B*15 may be protective in Saudi patients. However, larger scale studies are needed to confirm these findings.

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Amira Hamzaoui ◽  
Olfa Harzallah ◽  
Rim Klii ◽  
Silvia Mahjoub

Objectives. The aim of this study was to investigate if hyperhomocysteinaemia is a contributive risk factor for the pathogenesis and the activity of Behçet's disease (BD).Design and Methods. Fifty four patients fullfiling the criteria of the International Study Group for BD were enrolled. Fifty healthy volunteers matched for age and sex with the BD group were included as a negative control group. Patients, with any condition that might affect plasma homocysteine concentration, were excluded.Results. Mean serum homocysteine concentration was significantly higher in patients with BD than in the healthy controls (), in patients with active disease (), and in masculine gender (). There was no significant difference between homocysteine level and clinical involvement.Conclusions. We demonstrated that plasma total homocysteine level (tHcy) is increased in BD and correlated with disease activity. No association was found between homocysteine levels and clinical involvement.


Vascular ◽  
2020 ◽  
Vol 28 (6) ◽  
pp. 829-833
Author(s):  
Demet Yalçın Kehribar ◽  
Metin Ozgen

Objective This study aims to investigate the efficacy and reliability of infliximab treatment in Behcet’s disease with vascular involvement. Methods This single-center retrospective study included a total of 18 patients diagnosed with Behcet’s disease with vascular involvement who were initiated infliximab treatment after exhibiting resistance to conventional immunosuppressive treatments. Results Seventeen patients achieved remission with infliximab treatment. While 18 patients were receiving a median of 50 (IQR: 20–61) mg/day equivalent of methylprednisolone before infliximab treatment, after infliximab treatment, only four patients were receiving 4 mg/day equivalent of methylprednisolone ( p < 0.001). Only 4 patients were receiving oral anticoagulant treatment during infliximab treatment, and compared to the patients who were not receiving oral anticoagulants, there was no significant difference between the two groups according to occurrence of new vascular events. Conclusion Infliximab seems to be an effective and reliable treatment in Behcet’s disease with vascular involvement and may also allow reduced dosage or even the discontinuation of corticosteroids. The results of our study suggest that oral anticoagulant use is unnecessary in Behcet’s disease with vascular involvement. However, further long-term randomized controlled studies are needed to investigate the length of infliximab regimen, whether or not it should be discontinued, and if so, whether or not immunosuppressants should be given as maintenance after discontinuation.


Author(s):  
Kalpana Manthiram ◽  
Silvia Preite ◽  
Fatma Dedeoglu ◽  
Selcan Demir ◽  
Seza Ozen ◽  
...  

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children. The disease appears to cluster in families, but the pathogenesis is unknown. We queried two European–American cohorts and one Turkish cohort (total n = 231) of individuals with PFAPA for common variants previously associated with two other oropharyngeal ulcerative disorders, Behçet’s disease and recurrent aphthous stomatitis. In a metaanalysis, we found that a variant upstream of IL12A (rs17753641) is strongly associated with PFAPA (OR 2.13, P = 6 × 10−9). We demonstrated that monocytes from individuals who are heterozygous or homozygous for this risk allele produce significantly higher levels of IL-12p70 upon IFN-γ and LPS stimulation than those from individuals without the risk allele. We also found that variants near STAT4, IL10, and CCR1-CCR3 were significant susceptibility loci for PFAPA, suggesting that the pathogenesis of PFAPA involves abnormal antigen-presenting cell function and T cell activity and polarization, thereby implicating both innate and adaptive immune responses at the oropharyngeal mucosa. Our results illustrate genetic similarities among recurrent aphthous stomatitis, PFAPA, and Behçet’s disease, placing these disorders on a common spectrum, with recurrent aphthous stomatitis on the mild end, Behçet’s disease on the severe end, and PFAPA intermediate. We propose naming these disorders Behçet’s spectrum disorders to highlight their relationship. HLA alleles may be factors that influence phenotypes along this spectrum as we found new class I and II HLA associations for PFAPA distinct from Behçet’s disease and recurrent aphthous stomatitis.


Author(s):  
Farhad SHAHRAM ◽  
Javad KAZEMI ◽  
Mahmoud MAHMOUDI ◽  
Zohreh JADALI

Background: Both genetic and environmental factors influence, susceptibility to autoimmune disorders including Behcet’s disease (BD). FCRL3 (Fc receptor like 3 genes), a novel immunoregulatory gene, has recently been reported as a new promising candidate gene for general autoimmunity. This study was conducted to explore the potential association of FCRL3 polymorphisms with BD. Methods: This study was conducted from 2010 to 2015 in Tehran University of Medical Sciences, Tehran, Iran. Four single-nucleotide polymorphisms of FCRL3 (rs7528684, rs11264799, rs945635, and rs3761959) were genotyped in 220 patients and 220 healthy controls. Typing of the polymorphisms in this case-control study was carried out using polymerase chain reaction-restriction fragment length polymorphism analysis. Results: Analysis of the alleles revealed a significantly lower frequency of the A allele at the -169 site (rs7528684) in BD patients compared with that in controls (P=0.000, 66.4% versus 82%, χ2= 30.23). Moreover, a significant lower frequency of AA genotype and higher frequency of GG genotype was recorded for rs7528684. There was also relationship between posterior uveitis as a clinical sign of disease and polymorphism of allele A at the -169 site (P=0.015). Conclusion: This study revealed a significant difference in both allele and genotype frequency at position -169 of FCRL3 gene between Iranian patients with BD and normal subjects. These data suggest FCRL3 gene polymorphisms might be the autoimmunity risk factor for BD.


2013 ◽  
Vol 45 (3) ◽  
pp. 319-324 ◽  
Author(s):  
Travis Hughes ◽  
Patrick Coit ◽  
Adam Adler ◽  
Vuslat Yilmaz ◽  
Kenan Aksu ◽  
...  

2017 ◽  
Vol 2017 ◽  
pp. 1-13 ◽  
Author(s):  
Bunsoon Choi ◽  
Chang-Hee Suh ◽  
Hyoun-Ah Kim ◽  
Hasan M. Sayeed ◽  
Seonghyang Sohn

The purpose of this study was to clarify the role of pattern recognition receptors in Behçet’s disease (BD). The frequencies of several pattern recognition receptors (CD11b, CD11c, CD32, CD206, CD209, and dectin-1) were analyzed in patients with BD by flow cytometry, and cytokine levels, interleukin- (IL-) 18, IL-23, and IL-17A, were compared in plasma. The analysis was performed in active (n=13) and inactive (n=13) stages of BD patients. Rheumatoid arthritis patients (n=19), as a disease control, and healthy control (HC) (n=19) were enrolled. The frequencies of CD11b+ and CD32+ cells were significantly increased in active BD patients compared to HC. Disease severity score was correlated to CD11c+, CD206+, and CD209+ in whole leukocytes and CD11b+, CD11c+, CD206+, CD209+, and Dectin-1+ in granulocytes. The plasma levels of IL-17A were significantly different between HC and active BD. IL-18 showed significant difference between active and inactive BD patients. From this study, we concluded the expressions of several pattern recognition receptors were correlated to the joint symptoms of BD.


2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Fatih Mehmet Türkcü ◽  
Abdullah Kürşat Cingü ◽  
Harun Yüksel ◽  
Yasin Çınar ◽  
Meltem Akkurt ◽  
...  

Objective. To determine whether mean platelet volume (MPV) is an indicator of disease severity in ocular Behçet’s Disease (BD).Materials and Methods. The study population was 30 newly diagnosed ocular BD patients who presented with active uveitis. These patients had no past history of smoking, drug use, or systemic diseases including diabetes mellitus, hypertension, cardiovascular disease, and renal disease. A control group consisting of 34 healthy individuals was included for comparison. MPV measurements were performed serially upon presentation with active uveitis and at one and three month thereafter in BD group whereas only at presentation in the controls.Results. Upon presentation with active uveitis, the mean MPV levels were 7.88 ± 1.14 femtoliters (fL) for BD group. During the posttreatment follow-up period at first and third months, BD patients demonstrated a mean MPV level of 7.71 ± 1.12 fL and 7.65 ± 1.04 fL, respectively. The mean MPV value of control group, was 8.39 ± 0.66 fL at presentation. Fluctuations in MPV values were not significant in the BD group, while there was a significant difference between the initial measurements of the BD and control groups.Conclusion. MPV measurement in ocular BD is not a predictive laboratory test to determine the clinical improvement in early stages following classical immunosuppressive treatment.


Author(s):  
X. Li ◽  
X. Wen ◽  
J. Xu ◽  
Q. Lin ◽  
L. Liu

Abstract Background Aortic regurgitation is the most common cardiovascular damage in Chinese patients with Behçet’s disease (BD) and is usually associated with aortic disease. These patients are easily misdiagnosed, and their prognosis is poor, even after surgical treatment. This study aimed to analyse potential factors that can improve the prognosis of BD patients with aortic regurgitation and/or aortic involvement. Methods Twenty-two patients with diagnosed or suspected BD as well as aortic regurgitation and/or aortic involvement in our hospital from 2012 through 2017 were collected in this study. Their clinical characteristics were listed, and the diagnosis of BD was evaluated by two different criteria sets. The influences of surgical treatment and immunosuppressive therapy (IST) on their prognosis were also explored. Results The diagnostic positive rate of the International Criteria for Behçet’s Disease was higher than that of the International Study Group criteria (kappa value 0.31, p < 0.05), indicating that the diagnostic consistency between the criteria sets was poor. There was no significant difference in survival between patients who had undergone ≤ 1 operation and those with ≥ 2 operations. Aortic valve replacement alone or in combination with aortic root replacement had no significant effect on the incidence of reoperation or death, but IST did significantly reduce this incidence (p < 0.05). However, there was no significant difference in the occurrence of reoperation or death between preoperative and postoperative IST versus postoperative IST only. Conclusion IST significantly improved the prognosis of BD patients with aortic regurgitation and/or aortic involvement.


2020 ◽  
Vol 4 (2) ◽  
pp. 026-031
Author(s):  
Dag Seker ◽  
Karadag Ahmet

The aim of this study was to measure serum leptin and vitamin D levels in remission in Behcet's disease (BD) and to investigate the relationship between leptin and vitamin D levels with neutrophil / lymphocyte ratio (NLR) and platelet / lymphocyte ratio (PLR). This study was conducted in 20 healthy volunteers and 27 BH who were in remission. The age, sex, and body mass index values (BMI) of both groups were recorded. Venous blood samples were taken from both groups at the end of 12 h fasting. Serum leptin, vit-D, high-sensitivity C-reactive protein (hsCRP), erythrocyte sedimentation rate (ESR), white blood cell (WBC), neutrophil, lymphocyte and platelet counts were measured from the obtained sera according to the kit protocols. There was no statistically significant difference between the groups in terms of hsCRP, ESR, WBC, leptin, vit-D and NLR and PLR values (p> 0.05). Correlation of leptin levels with NLR and PLR values in both groups were not statistically significant (p>0.05). The results showed that there was no relationship between the measured values and the course of the diseaseBD


2021 ◽  
Vol 8 (2) ◽  
pp. 01-07
Author(s):  
Mohammad Khalaj-Kondori ◽  
Reza Hosseinzadeh ◽  
Leila Saremi ◽  
Mohammad Ebrahim Ghaffari ◽  
Sepideh Babaniamansour

Background: Behçet's disease (BD) is a chronic inflammatory disease with unknown causes. The geographical distribution is mostly consistent with the historic Silk Road. The role of tumor necrosis factor receptor-associated factor 5 (TRAF5) gene in the inflammation signaling pathway leads more attention to the potency of different polymorphisms of the TRAF5 gene, in the development of BD. Methods: This was a case-control study conducted among the Azeri Turk ethnic group (50 BD patients and 50 persons with no history of autoimmune disease), Tabriz, Iran. Four different TRAF5 gene polymorphisms were assessed via the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism technique. Data were analyzed by SPSS Version 20. Results: Genotypic distributions of four studied Single nucleotide polymorphisms (SNPs) had no significant difference between case and control groups (rs6540679 (p=0.50), rs12569232 (p=0.86), rs10863888 (p=0.14), and rs7514863 (p=0.24). There were also found no significant differences in SNP allelic frequencies between cases and controls


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