Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease

2013 ◽  
Vol 45 (3) ◽  
pp. 319-324 ◽  
Author(s):  
Travis Hughes ◽  
Patrick Coit ◽  
Adam Adler ◽  
Vuslat Yilmaz ◽  
Kenan Aksu ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Susceptibility Loci ◽  
Behcet's Disease

scholarly journals Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis

2020 ◽  
pp. 202002051 ◽  
Author(s):  
Kalpana Manthiram ◽  
Silvia Preite ◽  
Fatma Dedeoglu ◽  
Selcan Demir ◽  
Seza Ozen ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Risk Allele ◽  
Behçet's Disease ◽  
Periodic Fever ◽  
Recurrent Aphthous Stomatitis ◽  
Aphthous Stomatitis ◽  
Susceptibility Loci ◽  
Behcet's Disease ◽  
Pfapa Syndrome

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.

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 ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Active Form ◽  
Susceptibility Loci ◽  
Behcet's Disease ◽  
Ethnic Populations ◽  
Significant Difference ◽  
Hla Genotyping ◽  
Saudi Patients

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.

scholarly journals Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1

2013 ◽  
Vol 45 (2) ◽  
pp. 202-207 ◽  
Author(s):  
Yohei Kirino ◽  
George Bertsias ◽  
Yoshiaki Ishigatsubo ◽  
Nobuhisa Mizuki ◽  
Ilknur Tugal-Tutkun ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Association Analysis ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Genome Wide Association ◽  
Susceptibility Loci ◽  
Behcet's Disease ◽  
Genome Wide Association Analysis ◽  
Genome Wide

Coagulation and Fibrinolytic Activity in Behçet's Disease

1991 ◽  
Vol 66 (03) ◽  
pp. 292-294 ◽  
Author(s):  
K K Hampton ◽  
M A Chamberlain ◽  
D K Menon ◽  
J A Davies
Keyword(s):  
Plasminogen Activator ◽  
Tissue Plasminogen Activator ◽  
Behçet’S Disease ◽  
Fibrinolytic Activity ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Plasminogen Activator Inhibitor ◽  
Behcet's Disease ◽  
Tissue Plasminogen ◽  
Von Willebrand

SummaryCoagulation and fibrinolytic activities were studied in 18 subjects with Behçet's disease and compared with results from 14 matched control patients suffering from sero-negative arthritis. Significantly higher plasma concentrations (median and range) were found in Behçet's patients for the following variables: fibrinogen 3.7 (1.7-6.9) vs 3.0 (2.0-5.1) g/1, p <0.05; von Willebrand factor antigen, 115 (72-344) vs 74 (60-119)%, p <0.002; plasminogen activator activity (106/ECLT2) 219 (94-329) vs 137 (78-197) units, p <0.002; tissue plasminogen activator inhibitor (t-PA-I) activity, 9.1 (5.5-19.3) vs 5.1 (1.8-12.0) IU/ml, p <0.002; and PAI-1 antigen, 13.9 (4.5-20.9) vs 6.4 (2.4-11.1) ng/ml, p <0.002. Protein C antigen was significantly lower: 97 (70-183) vs 126 (96-220)%, p <0.02. No differences were observed in antithrombin III activity or antigen, factor VIII coagulant activity, fibrinopeptides A and Bβ15-42, plasminogen, α-2-antiplasmin, functional and immunological tissue-plasminogen activator, thrombin-antithrombin complexes and D-dimer. Levels of tissue plasminogen activator inhibitor (activity and antigen) correlated with disease activity while fibrinogen and von Willebrand factor concentrations did not. Seven of the 18 subjects with Behçet's disease had suffered thrombotic events but it was not possible to distinguish these from the 11 patients without thrombosis using the assays performed. The results suggest the abnormal fibrinolytic activity in Behçet's disease is due to increased inhibition of tissue plasminogen activator. No abnormality of coagulation or fibrinolytic activity specific to Behçet's disease was detected.

Circulating Thrombomodulin as a Clue of Endothelial Damage in Behçet’s Disease

1996 ◽  
Vol 75 (06) ◽  
pp. 974-975 ◽  
Author(s):  
İbrahim C Haznedaroğlu ◽  
Oktay Özdemir ◽  
Osman Özcebe ◽  
Semra V Dündar ◽  
Şerafettin Kirazli
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Endothelial Damage ◽  
Behcet's Disease

Radiological evaluation of vasculo-Behcet's disease

1993 ◽  
Vol 29 (1) ◽  
pp. 62 ◽  
Author(s):  
Kyung Hwan Lee ◽  
Jae Hyung Park ◽  
Joon Ku Han ◽  
Hyun Ae Park ◽  
Jin Wook Chung ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Radiological Evaluation ◽  
Behcet's Disease

Subacute thyroiditis in association with psoriasis and behcet's disease

2018 ◽  
Author(s):  
Ferreira Paulo Carvalho ◽  
Bruno Maia ◽  
Antonio Marinho ◽  
Ana Veloso ◽  
Ivo Cunha ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Subacute Thyroiditis ◽  
Behcet's Disease
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