Association of synaptosomal-associated protein 25 (SNAP-25) gene polymorphism with temperament and character traits in women with fibromyalgia syndrome

Background: Synaptosomal-associated protein 25 (SNAP-25) may be contribute to the pathogenesis of fibromyalgia Syndrome (FMS) by affecting the release of neurotransmitters. Objectives: We aimed to investigate the relationship between the SNAP-25 gen (DdeI = rs1051312 and MnlI = rs3746544) polymorphism and the temperament and character traits. Methods: A total of 85 female patients diagnosed with FMS and 70 age-matched healthy female subjects were enrolled into the study. The Temperament and Character Inventory (TCI) were performed on all the patients. SNAP-25 gene polymorphism was determined in the patients group and controls group. Results: No significant difference between groups was found regarding the distribution of SNAP-25 MnlI polymorphism (p > 0.05), but it was seen that the frequency of TC genotype for DdeI gene was higher in the patients group (p < 0.05). Increased hazard avoidance was found in the patients group (p < 0.05). When TCI scores were assessed in terms of SNAP-25 gene polymorphism, no statistically significant relationship was detected between the TT, TG, GG genotypes for MnlI gen and TCI scores (p > 0.05). However, increased hazard avoidance was detected in patients with TC genotype for DdeI gene compared to patients without such genotype. Discussion: SNAP-25 might be an etiological factor in FMS pathogenesis and might affect personality traits of FMS patients by mediating neurotransmitter release

Analysis of the common genetic component of large-vessel vasculitides through a meta- Immunochip strategy

Giant cell arteritis (GCA) and Takayasu's arteritis (TAK) are major forms of large-vessel vasculitis (LVV) that share clinical features. To evaluate their genetic similarities, we analysed Immunochip genotyping data from 1,434 LVV patients and 3,814 unaffected controls. Genetic pleiotropy was also estimated. The HLA region harboured the main disease-specific associations. GCA was mostly associated with class II genes (HLA-DRB1/HLA-DQA1) whereas TAK was mostly associated with class I genes (HLA-B/MICA). Both the statistical significance and effect size of the HLA signals were considerably reduced in the cross-disease meta-analysis in comparison with the analysis of GCA and TAK separately. Consequently, no significant genetic correlation between these two diseases was observed when HLA variants were tested. Outside the HLA region, only one polymorphism located nearby the IL12B gene surpassed the study-wide significance threshold in the meta-analysis of the discovery datasets (rs755374, P?=?7.54E-07; ORGCA?=?1.19, ORTAK?=?1.50). This marker was confirmed as novel GCA risk factor using four additional cohorts (PGCA?=?5.52E-04, ORGCA?=?1.16). Taken together, our results provide evidence of strong genetic differences between GCA and TAK in the HLA. Outside this region, common susceptibility factors were suggested, especially within the IL12B locus

Comparison of IL-23 receptor gene polymorphisms in patients with primary sjogren syndrome, ankylosing spondylitis. and ankylosing spondylitis with sjogren's syndrome

Objectives: The frequency of Interleukin-23 receptor (IL-23R) gene polymorphism was previously studied in Ankylosing spondylitis (AS) and Sjogren syndrome (SS). However, it hasn't been studied in patients AS with SS. Methods: The study included 124 patients with AS, 55 patients with SS and 12 patients with association of AS and SS. Results: It was found that there was an increase in the frequency of rs10889677 gene mutant genotype while a decrease in the frequency of in rs11209032 gene mutant genotype in AS group compared to the healthy controls. In SS group, it was found that there was an increase the frequencies of rs11805303 gene wild genotype and rs2201841 gene wild genotype while a decrease in the frequencies of rs11209032 gene heterozygote genotype and rs10489629 gene mutant genotype when compared to healthy controls. CGCAA haplotype was associated with risk for AS (P=0.0125; RR: 1.32). CGCAG haplotype was associated with protective effect against ankylosing spondylitis (P=0.0042; RR: 0.52). While CTCAA haplotype was found to be protective against SS (P=0.022; RR: 0.46), it was associated with increased risk for association of AS and SS (P=0.0095; RR: 2.79). CTCAG haplotype was associated with protective effect against association of AS and SS (P=0.0151; RR: 0.02). It was observed that TGCGG haplotype increased significantly in SS group compared to the healthy controls and that it was related with increased risk for SS (P=0.032, RR: 2.56). Conclusion: Genotype distribution and genetic diversity vary among ethnic groups. Studies with larger sample size are needed to further clarify this issue

Effect of Infliximab Treatment on QT Intervals in Patients With Ankylosing Spondylitis

Background: Cardiovascular complications are one of the most common and the most serious extraskeletal manifestations of ankylosing spondylitis (AS). Infliximab, a monoclonal antibody against tumor necrosis factor, is widely used in the treatment of AS. QT dispersion (QTd), which relates to left ventricular function and is used as an index of cardiac dysrhythmia, may be useful as a prognostic guide. Early detection of possible cardiac involvement may not be clinically evident, whereas it may be detected by electrocardiography

The nailfold videocapillaroscopy findings of Behcet's syndrome

Background: Nailfold videocapillaroscopy (NVC) is a diagnostic method for evaluating the microvasculature. Behcet's disease (BD) can affect vessels of all types and sizes