Association of LACC1, CEBPB-PTPN1, RIPK2 and ADO-EGR2 with ocular Behcet’s disease in a Chinese Han population

BackgroundAn Immunochip study recently identified the association of a number of new genetic loci with Behcet’s disease (BD).ObjectiveTo confirm the association between new genetic loci reported in an Immunochip study and BD in a Han Chinese population.MethodsA two-stage association study was carried out in 1238 patients with BD and 1458 healthy controls. Twenty-two candidate single nucleotide polymorphisms (SNPs) were selected for genotyping by iPLEXGold genotyping or TaqMan SNP assays and a meta-analysis was performed for significantly associated markers.ResultsThe results showed that four SNPs (LACC1/rs9316059, CEBPB-PTPN1/rs913678, ADO-EGR2/rs224127 and RIPK2/rs10094579) were associated with BD in an allelic association test (rs9316059 T allele: pc=4.95×10−8, OR=0.687; rs913678 C allele: pc=3.01×10−4, OR=1.297; rs224127 A allele: pc=3.77×10−4, OR=1.274; rs10094579 A allele: pc=6.93×10−4, OR=1.302). For four SNPs tested by meta-analysis, the association with BD was strengthened and all exceeded genome-wide significance (rs9316059: p=2.96×10−16; rs913678: p=2.09×10−16; rs224127: p=5.28×10−13; rs10094579: p=9.21×10−11).ConclusionsOur findings confirmed the association of four loci (LACC1, CEBPB-PTPN1, ADO-EGR2 and RIPK2) in Chinese Han patients with BD.

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Genetic Variations of NLR family genes in Behcet’s Disease

Scientific Reports ◽

10.1038/srep20098 ◽

2016 ◽

Vol 6 (1) ◽

Cited By ~ 9

Author(s):

Lin Li ◽

Hongsong Yu ◽

Yanni Jiang ◽

Bolin Deng ◽

Lin Bai ◽

...

Keyword(s):

Behçet’S Disease ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Nucleotide Polymorphisms ◽

Mrna Expression Level ◽

Chinese Han ◽

Single Nucleotide ◽

Behcet's Disease ◽

Han Population ◽

Second Stage

Abstract This study aimed to investigate whether single nucleotide polymorphisms (SNPs) of five NLR family genes (NOD1, NOD2, NLRP1, NLRP3 and CIITA) are associated with Behcet’s disease (BD) in a Chinese Han population. The study was carried out in 950 BD patients and 1440 controls for 19 SNPs in the selected NLR genes. In the first-stage study, significantly decreased frequencies of the CIITA//rs12932187 C allele (Pc = 1.668E-02) and NOD1//rs2075818 G allele (Pc = 4.694E-02) were found in BD patients as compared to controls . After performing a second stage validation study and combination of data we confirmed the association of CIITA//rs12932187 and NOD1//rs2075818 with BD. In CIITA//rs12932187, the frequencies of the CC genotype and C allele were significantly lower in BD than in controls (Pc = 3.331E-06; Pc = 6.004E-07, respectively). In NOD1//rs2075818, the GG genotype and G allele showed significantly decreased frequencies in BD patients when compared to controls (Pc = 1.022E-02; Pc = 6.811E-05, respectively). Functional experiments showed that carriers with the CC genotype in CIITA//rs12932187 had a lower CIITA mRNA expression level and an enhanced IL-10 secretion as compared to GG and CG carriers. This study provides evidence that the CIITA and NOD1 gene are involved in the susceptibility to Behcet’s disease.

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Association of Single Nucleotide Polymorphisms in the CXCR1 , CXCR2 and CXCL5 with the Behçet's Disease in Denizli Province of Turkey

Clinical and Experimental Dermatology ◽

10.1111/ced.14766 ◽

2021 ◽

Author(s):

S. Arikan ◽

A. Atalay ◽

O. Öztürk ◽

Ş. Duygulu ◽

E.Ö. atalay

Keyword(s):

Single Nucleotide Polymorphisms ◽

Behçet’S Disease ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Behcet's Disease

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STAT4 polymorphism in a Chinese Han population with Vogt–Koyanagi–Harada syndrome and Behçet's disease

Human Immunology ◽

10.1016/j.humimm.2010.04.007 ◽

2010 ◽

Vol 71 (7) ◽

pp. 723-726 ◽

Cited By ~ 29

Author(s):

Ke Hu ◽

Peizeng Yang ◽

Zhengxuan Jiang ◽

Shengping Hou ◽

Liping Du ◽

...

Keyword(s):

Behçet’S Disease ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Chinese Han Population ◽

Chinese Han ◽

Behcet's Disease ◽

Han Population

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Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01576-5 ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Tim T. A. Bender ◽

Judith Leyens ◽

Julia Sellin ◽

Dmitrij Kravchenko ◽

Rupert Conrad ◽

...

Keyword(s):

Systematic Review ◽

Systemic Sclerosis ◽

Behçet’S Disease ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Meta Analysis ◽

Controlled Trials ◽

Behcet's Disease ◽

Randomized Controlled ◽

Anca Associated Vasculitis

Abstract Background Rare diseases (RDs) in rheumatology as a group have a high prevalence, but randomized controlled trials are hampered by their heterogeneity and low individual prevalence. To survey the current evidence of pharmacotherapies for rare rheumatic diseases, we conducted a systematic review and meta-analysis. Randomized controlled trials (RCTs) of RDs in rheumatology for different pharmaco-interventions were included into this meta-analysis if there were two or more trials investigating the same RD and using the same assessment tools or outcome parameters. The Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, and PUBMED were searched up to April 2nd 2020. The overall objective of this study was to identify RCTs of RDs in rheumatology, evaluate the overall quality of these studies, outline the evidence of pharmacotherapy, and summarize recommended therapeutic regimens. Results We screened 187 publications, and 50 RCTs met our inclusion criteria. In total, we analyzed data of 13 different RDs. We identified several sources of potential bias, such as a lack of description of blinding methods and allocation concealment, as well as small size of the study population. Meta-analysis was possible for 26 studies covering six RDs: Hunter disease, Behçet’s disease, giant cell arteritis, ANCA-associated vasculitis, reactive arthritis, and systemic sclerosis. The pharmacotherapies tested in these studies consisted of immunosuppressants, such as corticosteroids, methotrexate and azathioprine, or biologicals. We found solid evidence for idursulfase as a treatment for Hunter syndrome. In Behçet’s disease, apremilast and IF-α showed promising results with regard to total and partial remission, and Tocilizumab with regard to relapse-free remission in giant cell arteritis. Rituximab, cyclophosphamide, and azathioprine were equally effective in ANCA-associated vasculitis, while mepolizumab improved the efficacy of glucocorticoids. The combination of rifampicin and azithromycin showed promising results in reactive arthritis, while there was no convincing evidence for the efficacy of pharmacotherapy in systemic sclerosis. Conclusion For some diseases such as systemic sclerosis, ANCA-associated vasculitis, or Behcet's disease, higher quality trials were available. These RCTs showed satisfactory efficacies for immunosuppressants or biological drugs, except for systemic sclerosis. More high quality RCTs are urgently warranted for a wide spectrum of RDs in rheumatology.

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Weak association of a TNFRSF1A polymorphism with Behcet's disease in Chinese Han

Experimental Eye Research ◽

10.1016/j.exer.2020.108045 ◽

2020 ◽

Vol 196 ◽

pp. 108045

Author(s):

Lili Hu ◽

Handan Tan ◽

Qingfeng Cao ◽

Gangxiang Yuan ◽

Changwei Huang ◽

...

Keyword(s):

Behçet’S Disease ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Chinese Han ◽

Behcet's Disease ◽

Weak Association

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Single Nucleotide Polymorphisms of FCRL3 in Iranian Patients with Behcet’s Disease

Iranian Journal of Public Health ◽

10.18502/ijph.v48i6.2926 ◽

2020 ◽

Author(s):

Farhad SHAHRAM ◽

Javad KAZEMI ◽

Mahmoud MAHMOUDI ◽

Zohreh JADALI

Keyword(s):

Single Nucleotide Polymorphisms ◽

Behçet’S Disease ◽

Behcet’S Disease ◽

Behçet's Disease ◽

Polymorphism Analysis ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Behcet's Disease ◽

Significant Difference ◽

Iranian Patients

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.

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