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 ◽  
...  

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.

2021 ◽  
pp. 1-10
Author(s):  
Asmaa Kamal ◽  
Fatema T Elgengehy ◽  
Zahraa Elawady ◽  
Nahla A. Fawzy ◽  
Ola El Sisi

2013 ◽  
Vol 74 (2) ◽  
pp. 230-233 ◽  
Author(s):  
María Carmen Cénit ◽  
Norberto Ortego-Centeno ◽  
Enrique Raya ◽  
José L. Callejas ◽  
Francisco J. García-Hernandez ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Kadir Harmanci ◽  
Ozden Yildirim Akan ◽  
Timur Pirildar ◽  
Pinar Ortan ◽  
Cevval Ulman

Background. There is no specific marker that shows the disease activity in Behçet’s disease. Aim. In this study, we aimed to investigate VEGF-B and VEGF gene expressions and sTREM-1 levels in association with the activation of Behçet’s disease. Study Design. Case-control study. Methods. Clinical features of patients who applied in the rheumatology clinic and were diagnosed with BD according to the international working group’s criteria were investigated. 30 healthy volunteers and 30 patients in the active period according to the EBDCAF scoring were studied. VEGF-B and VEGF gene expressions and sTREM-1 levels were studied in the serum samples of the patients and the control subjects. Results. The VEGF-B expressions and sTREM-1 levels were higher in the BD than those in the healthy group, but this difference did not reach statistical significance. VEGF gene expression was statistically significant (p=0.008). Behçet’s disease patients with oral aphthae, genital ulcer, eye, joint, vascular, skin, and neurological involvement were analyzed separately as subgroups. We find that VEGF gene expression level of Behçet’s disease patients with joint involvement (arthritis/arthralgia) and also VEGF-B and VEGF gene expression of Behçet’s disease with vascular involvement (DVT/thrombophlebitis) were significantly higher (p=0.035, p=0.021). Each subgroup was analyzed with the control group. We determined that VEGF gene expression in all subgroups was significantly higher than that in the control group. At the same time, VEGF-B levels of patients with genital ulcer and vascular involvement (DVT/thrombophlebitis) were significantly higher than those in the control group. Conclusion. VEGF-B and VEGF gene expressions can be activity indicators for BD. In addition, this study shows that new treatment options should be explored for Behçet’s disease patients with joint and vascular involvement. In the following years, new treatment methods are needed to investigate for revealing the role of the etiopathogenesis of BD and the activation and prognosis of VEGF by examining this study and providing much more participation. In our study group, the sTREM-1 levels were high but the results did not reach statistical significance. More studies are needed with larger groups in order the highlight the exact role of STREM-1 in Behçet’s disease.


2014 ◽  
Vol 92 (9) ◽  
pp. 961-967 ◽  
Author(s):  
Hongsong Yu ◽  
Yunjia Liu ◽  
Lin Bai ◽  
Aize Kijlstra ◽  
Peizeng Yang

2013 ◽  
Vol 132 (9) ◽  
pp. 1049-1058 ◽  
Author(s):  
Shengping Hou ◽  
Jian Qi ◽  
Qi Zhang ◽  
Dan Liao ◽  
Qi Li ◽  
...  

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Lin Li ◽  
Hongsong Yu ◽  
Yanni Jiang ◽  
Bolin Deng ◽  
Lin Bai ◽  
...  

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.


2008 ◽  
Vol 2008 ◽  
pp. 1-9 ◽  
Author(s):  
Selda Pelin Kartal Durmazlar ◽  
Ahmet Akgul ◽  
Fatma Eskioglu

Objective. Our aim was to evaluate the significance of homocysteine (Hcy) in Behcet's disease (BD) and the association of elevated Hcy levels associated with the indices of inflammation in BD.Methods. Untreated 70 patients with BD and 33 healthy individuals were included into the study. Hcy, tumor necrosis alpha (TNF-), C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) were evaluated with respect to activity and specific individual clinical manifestations of the disease.Results. Hcy levels were found significantly elevated in active BD when compared to inactive BD and healthy controls. Hcy levels were found to have high correlation with the number of active clinical manifestations increased. A significant positive correlation was found between serum Hcy and TNF- levels, CRP, and ESR. Hcy was found to be the best predictor of TNF- among other parameters.Conclusion. Hcy may involve in the pathogenesis of BD by inducing inflammation.


1995 ◽  
Vol 23 (01) ◽  
pp. 81-90 ◽  
Author(s):  
Shigeruko lijima ◽  
Fujio Otsuka ◽  
Yuji Kikuchi

To investigate the efficacy of Unsei-in on skin diseases such as Behçet's disease, palmoplantar pustulosis and psoriasis vulgaris, the rheological activity of leukocytes as manifested by adhesiveness, deformability and aggregability was studied in vitro using a micropore filtration method. Unsei-in inhibited the rheological activity of leukocytes at a statistical significance of p < 0.01 in normal individuals whose leukocytes had been stimulated with N-formyl-methionyl-leucyl-phenylalanine (FMLP). It did not, however, inhibit the activity of cells that had not been stimulated by FMLP. In contrast, in Behçet's disease, Unsei-in inhibited rheological activity of non-stimulated leukocytes ( p < 0.01) but did not inhibit the rheological activity of FMLP-stimulated leukocytes. In a study using Ouren-gedoku-to and Shimotsu-to, the main constituents of Unsei-in, the latter inhibited the activity of FMLP-stimulated leukocytes in normal individuals ( p < 0.02). These results indicate that Unsei-in has an inhibitory effect on rheologically-activated neutrophils, which are involved in the healing mechanisms of the above skin diseases, and it also has a satisfactory effect in the form of a mixture of Shimotsu-to and Ouren-gedoku-to.


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