Clinical significance of CCN2/connective tissue growth factor in Behçet's disease patients.

AIM: Behçet's disease (BD) is a chronic autoimmune vasculitic disorder of unclear pathogenesis. CCN2/CTGF (connective tissue growth factor) is one of the CCN family members which carry out pro-angiogenic biological functions and play an important role in inflammatory and autoimmune diseases. The aim of the present study was to assess CCN2 plasma concentrations in BD patients and to analyze their association with clinical features of the disease, activity and laboratory parameters. METHODS: We included 87 BD patients and 60 healthy control subjects matched for age and gender. Demographic, clinical, disease activity and severity data were recorded. Plasma CCN2 concentrations were measured using enzyme-linked immunosorbent assay. RESULTS: The plasma concentrations of CCN2 in BD patients were significantly elevated compared to healthy controls. The mean plasma CCN2 levels in patients with major organ involvement were significantly higher than those without. Patients who received steroids or cyclophosphamide showed a significant reduction in CCN2 levels. This was confirmed by the results of multivariate analysis. Patients with active ocular disease had a significant increase in CCN2 compared to the inactive group. On the other hand, CCN2 levels were not significantly correlated with overall disease activity and severity scores. CONCLUSION: Behçet's disease patients showed a significant increase of CCN2 levels, especially in the group of patients with major organ involvement. A significant reduction of these levels was found in patients who received steroids or cyclophosphamide. Larger studies with further investigations of the precise role of CCN2 in BD pathogenesis might lead to novel therapies for the clinical management of this disease.

Association between miRNA-146a and Polymorphisms of its Target Gene, IRAK1, Regarding Susceptibility to and Clinical Features of Systemic Lupus Erythematous and Multiple Sclerosis.

Single-nucleotide polymorphisms (SNPs) in microRNA-146a (miRNA-146a) can be associated with the development of immune-system dysfunctions.The aim of this work is to correlate SNPs of miRNA-146a and its target gene, IRAK1, with susceptibility, clinical manifestations, and diseases progression in patients with systemic lupus erythematous (SLE) and multiple sclerosis (MS). Genotyping for miRNA-146a (rs2910164) and its target gene IRAK1 (rs3027898) was performed using real-time polymerase chain reaction (RT-PCR) in 80 patients with SLE and 70 patients with MS, as well as 120 healthy control individuals. A statistically significant difference was found between the frequencies of the genotypes and alleles of miRNA-146a (rs2910164) and IRAK1 (rs3027898), compared with the control group. Also, whereas the mutant allele G of miRNA-146a may be a factor in the pathogenesis of lupus nephritis, the mutant allele C of IRAK1 may play a role in lupus arthritis. Both genes may contribute to the susceptibility of patients to SLE and MS.

Contribution of protein Z gene single-nucleotide polymorphism to systemic lupus erythematosus in Egyptian patients.

Protein Z has been reported to exert an important role in inhibiting coagulation. Polymorphisms in the protein Z gene (PROZ) may affect protein Z levels and thus play a role in thrombosis. This study aimed to investigate the prevalence and clinical significance of protein Z gene G79A polymorphism in Egyptian patients with systemic lupus erythematosus (SLE). We studied the distribution of the protein Z gene (rs17882561) (G79A) single-nucleotide polymorphism by PCR-restriction fragment length polymorphism in 100 Egyptian patients with SLE and 100 age, sex, and ethnically matched controls. There was no statistically significant difference in the distribution of the genotypes between SLE patients and the control group in our study (P = 0.103). But a statistically significant difference in the frequency of the alleles between SLE patients and controls was observed (P = 0.024). Also a significant association was detected between protein Z genotypes (and also A allele) and thrombosis, which is one of the manifestations of SLE (P = 0.004 and P = 0.001, respectively). Moreover, we observed a significant association between the protein Z AA and GA genotypes (and also A allele) and the presence of anticardiolipin antibodies (P = 0.016 and P = 0.004, respectively). The minor A allele of the G79A polymorphism in the protein Z gene might contribute to the genetic susceptibility of SLE in Egyptian patients. Also, an influence for this polymorphism on some of the disease manifestations has been elucidated, so protein Z G79A AG/AA may be a risk factor for thrombosis.