Clinical significance of NCOA5 gene rs2903908 polymorphism in Behçet`s disease

Behçet’s disease (BD) is an autoimmune multisystemic disease. The precise etiology of BD is not fully understood; however, it is thought that interactions between genetic and environmental factors play an essential role in its pathogenesis. The nuclear receptor coactivator-5 (NCOA5) gene encodes a coregulator for nuclear receptor sub- family 1 group D member 2 (NR1D2) and estrogen receptor 1 and 2 (ESR1 and ESR2). Also, the NCOA5 gene insufficiency leads to an elevated expression of IL-6, and increased levels of IL-6 were found to be related to the pathogenesis of BD. In this study, we aimed to clarify the impact of the NCOA5 rs2903908 polymorphism on susceptibility and clinical findings of BD. This study included 671 participants (300 BD patients and 371 healthy controls). The analyses of NCOA5 rs2903908 polymorphism was performed by using the TaqMan allelic discrim- ination assay. The frequency of TT genotype of the NCOA5 rs2903908 polymorphism was found significantly higher in BD patients compared to those in healthy controls (p=0.016, OR=1.46, 95 % CI=1.08–1.99). Also, the frequencies of CT genotype was observed significantly higher in BD patients with genital ulceration and uveitis than without genital ulceration and uveitis (p=0.002 and p=0.005, respectively). The most significant association was found between C allele frequencies of BD patients with and without uveitis (p=0.0001). Our study represents e first time that the NCOA5 rs2903908 polymorphism seemed to be linked to BD susceptibility and clinical findings

Association of MEFV Gene Mutations with Rheumatoid Factor Levels in Patients with Rheumatoid Arthritis

Purpose Rheumatoid arthritis (RA) is a systemic autoimmune disease primarily affecting the joints. Arthritis disorders are associated with mutations of the Mediterranean fever ( MEFV) gene. This gene has already been identified as being responsible for familial Mediterranean fever. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations in a cohort of Turkish patients with RA. Methods The study included 101 patients with RA and 110 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction and restriction fragment length polymorphism for the 5 MEFV gene mutations (M694V, M680I, V726A, E148Q, and P369S). Results Carrier rates of MEFV gene mutations were 31 (30.7%) of 101 and 26 (23.6%) of 110 in the RA and healthy control groups, respectively ( P &gt; 0.05; odds ratio, 1.4; 95% CI, 0.77–2.65). Whereas deformed joint count was relatively higher in the mutation carrier group than those of the noncarrier group, the rheumatoid factor levels were significantly higher in the carrier group of patients with RA ( P = 0.001). Conclusions The results of this study suggest that MEFV gene mutations are not positively associated with a predisposition to develop RA but might increase the severity of RA. Further research is needed to determine the actual pathogenic role of MEFV mutations in this disease. </jats:sec

Effects of Paraoxonase-1 variants on course of severity and mortality of Crimean-Congo hemorrhagic fever

Crimean-Congo hemorrhagic fever (CCHF) is an acute viral hemorrhagic fever caused by Crimean Congo hemorrhagic fever virus (CCHFV). Paraoxonase-1 (PON1) is a high density lipoprotein (HDL)-binding protein which defense the body against oxidative stress. To investigate the role of the PON1 gene in CCHF, we screened the genotypes of two single nucleotide polymorphisms (Q192R [rs662] and L55M [rs854560]) in CCHF patients stratified according to course of severity and mortality by using PCR-based RFLP assay. Overall, 132 patients diagnosed as CCHF were enrolled in this study. The frequencies of the three genotypes and two alleles of Q192R and L55M polymorphisms didn't show any statistically significant differences in terms of mortality and disease severity (p > 0.05). Any statistically significant differences were not found between severe and mild and fatal and non-fatal CCHF patients according to seven composite genotypes (p > 0.05). When we analyzed the clinical characteristics of CCHF patients stratified according to PON1gene polymorphisms, any statistically significant differences were not also observed (p > 0.05). Our study showed no possible association between genotypes of PON1 gene Q192R and L55M polymorphisms and CCHF

Interleukin 28B rs12979860 CT, rs12980275 GA, rs8099917 GT and TT genotypes are the Predictors of Rapid Viral Response in Hepatitis C Virus-Infected Patients

Objective: In this study, the effects of genotypic differences on the clinical course of the disease, response to treatment and fibrosis were investigated in patients with hepatitis C virus (HCV) infection. Materials and Methods: Ninety-nine chronic HCV-infected patients and 95 controls were enrolled. The patients received pegylated interferon (PegIFN) + ribavirin (RBV) for 48 weeks and followed up for the next 48 weeks. Aspartate aminotransferase/platelet ratio index was used to determine the stage of liver fibrosis. DNA specimens were extracted from peripheral blood mononuclear cells and the interleukin (IL) 28B gene rs12979860, rs12980275, and rs8099917 were genotyped by the immune polymerase chain reaction-restriction fragment length polymorphism method. Results were analysed using the SPSS 16.0 and OpenEpi 2.2 softwares. Results: All patients had HCV genotype 1. Among the 99 HCV+patients, in 26.3% spontaneous viral clearance, in 42.8% rapid viral response, 92% early viral response and in 72.6% sustained viral response was observed. The allele frequencies of IL28B single nucleotide polymorphisms (SNP), rs12979860, rs12980275, and rs8099917 were not identical in all samples (p<0.005). SNP rs12979860 CT genotype (p=0.010); rs12980275 GA genotype (p=0.010); and rs8099917 GT and TT genotypes (p=0.019 and 0.020, respectively) were strongly associated with rapid viral response in the overall sample. Conclusion: The determination of IL28B polymorphisms may be useful to individualize treatment options when using PEG/RBV-based therapies for chronic HCV infection but genetic characteristics of populations of the countries must be known