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

Synaptosomal-associated protein 25 (Snap-25) gene Polymorphism frequency in fibromyalgia syndrome and relationship with clinical symptoms

Background: SNAP-25 protein is contributory to plasma membrane and synaptic vesicle fusions that are critical points in neurotransmission. SNAP-25 gene is associated with behavioral symptoms, personality and psychological disorders. In addition, SNAP-25 protein can be related to different neurotransmitter functions due to its association with vesicle membrane transition and fusion. This is important because neurologic, cognitive, and psychologic disorders in fibromyalgia syndrome (FMS) can be related to this function. This relationship may be enlightening for etiopathogenesis of FMS and treatment approaches. We aimed to study a SNAP-25 gene polymorphism, which is related to many psychiatric diseases, and FMS association in this prospective study. Methods. We included 71 patients who were diagnosed according to new criteria and 57 matched healthy women in this study. Both groups were evaluated regarding age, height, weight, BMI, education level, marital and occupational status. A new diagnosis of FMS was made from criteria scoring, SF-36, Beck depression scale, and VAS that were applied to the patient group. SNAP-25 gene polymorphism and disease activity score correlations were compared. Results: Mean age was 38±5,196 and 38.12±4.939 in patient and control groups, respectively (p=0.542). No significant difference was found between groups regarding age, height, weight, BMI, education level, marital or occupational status (p > 0.05). Ddel T/C genotype was significantly higher in the patient group (p = 0.009). MnlI gene polymorphism did not show a correlation with any score whereas a significant correlation was found between Ddel T/C genotype and Beck depression scale and VAS score (p ; 0.05). Conclusion: FMS etiopathogenesis is not clearly known. Numerous neurologic, cognitive and psychological disorders were found during studies looking at cause. Our study showed increased SNAP-25 Ddel T/C genotype in FMS patients compared to the control group, which is related to behavioral symptoms, personality and psychological disorders in FMS patients. © 2014Balkarli et al.; licensee BioMed Central Ltd

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

Development of Two Types of Skin Cancer in a Patient with Systemic Sclerosis: a Case Report and Overview of the Literature

Systemic sclerosis (SSc) is an uncommon rheumatic disease in which the underlying main histopathologic feature is a thickening of the skin due to excessive accumulation of collagen in the extracellular tissue. Fibrogenesis, chronic inflammation, and ulceration may eventually promote skin neoplasms. Although nonmelanoma skin cancer (NMSC) is the most frequent type, there have been restricted case reports and case series with skin cancers in SSc patients in the literature. Herein, we describe a 78-year-old woman diagnosed with diffuse cutaneous systemic sclerosis thirteen years ago and associated nonspecific interstitial pneumonia that was successfully treated with high cumulative doses of cyclophosphamide. She developed basal cell carcinoma and squamous cell carcinoma of the skin in the follow-up. She is still on rituximab treatment with stable interstitial lung disease as indicated by pulmonary function tests and high-resolution chest computed tomography. To our knowledge and a literature search, this is the first reported patient with SSc with two types of skin cancer. In this review, we also aimed to emphasize the relationship between SSc and skin cancer, and possible risk factors for SSc-related skin cancer

The Relationship between Disease Activity, Quality of Life, Functional Status, Spinal Mobility, Heel Enthesitis, and Cartilage Thickness in Patients with Axial Spondyloarthritis: A Cross-Sectional Study

Background: The aim of this study was to evaluate lower extremity cartilage thickness in axial spondyloarthritis (SpA) patients and healthy controls using ultrasound (US) and to determine the relationship between the indices, quality of life, enthesopathy, and cartilage thickness of patients with axial SpA. Materials and Methods: This study included 73 axial SpA patients and 30 healthy controls. The patients with axial SpA were divided into two groups as with and without heel enthesitis. Demographic data, disease duration, and medical treatments of patients were recorded. The cartilage (hip, talar, and knee), plantar fascia, and Achilles tendon thicknesses of both healthy controls and axial SpA patients were measured by US. The Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Metrology Index (BASMI), Bath Ankylosing Spondylitis Functional Index (BASFI), patient global assessment (PGA), and Ankylosing Spondylitis Quality of Life (ASQoL) scores of patients were evaluated. Results: There was no difference between the groups in terms of demographic data and body mass index. The axial SpA groups with and without heel enthesitis were similar in terms of medical treatment and disease duration. The axial SpA patients with heel enthesitis had thinner cartilages than those without heel enthesitis (P 0.05). The axial SpA patients without heel enthesitis had thinner cartilage thicknesses than the healthy control group (P 0.05). There were statistically significant differences between the two groups in terms of the BASDAI, BASFI, BASMI, and ASQoL scores. These indices were negatively correlated with cartilage thickness (P 0.05; r: -0.420). Conclusion: Lower extremity cartilage thickness is associated with disease activity, quality of life, and spinal mobility in patients with axial SpA

Turkish version of modified Hand Mobility in Scleroderma test: A translation and validation study

Objective Hand Mobility in Scleroderma (HAMIS) is a hand function test used to determine the degree of dysfunction of hand movements. The Modified Hand Mobility in Scleroderma (mHAMIS), on the other hand, was developed later and consists of 4 items. The aim of this study was to determine the reliability and validity of mHAMIS. Methods This study included a total of 39 patients with systemic sclerosis (SSc) who were assessed with mHAMIS. The Cronbach's alpha coefficient, Kappa concordance, and intraclass correlation were respectively used to assess the internal consistency, intra- and inter-observer agreement, and inter-observer reliability of the test. The correlation between the Health Assessment Questionnaire (HAQ), the Duruoz Hand Index (DHI), and the Turkish version of mHAMIS were evaluated. Results The internal consistency of the test items was between .912 and .939. The total internal consistency of the test was excellent, with a Cronbach's alpha value of .954. The intra- and inter-observer agreement were good, with Kappa values of 0.954 (95% CI 0.89-1.6) and 0.965 (95% CI 0.82-1.4), respectively. The inter-observer reliability was 0.966 (95% CI 0.936-0.982; P.0001). There was a strong correlation between DHI, HAQ, and mHAMIS (r: .7-.8). Conclusion The Turkish version of the mHAMIS test showed good intra- and inter-observer agreement, intra-observer reliability, and internal consistency. This test is a reliable and valid tool to assess hand functions in Turkish SSc patients

MEFV Gene Mutation may have a Culprit Role in the Pathogenesis of Gout

This paper is about an interesting case that presented with gastrointestinal system amyloidosis due to poorly controlled, polyarticular tophaceous gout. We aim to emphasize the culprit role of Mediterranean Fever (MEFV) gene mutations in such cases to prevent long-term poor complications, due to the unfavorable course of gout

Interleukin-1 gene (IL-1) polymorphism in patients with Behcet's Disease, and its relationship with disease manifestations

Objective: The objective of this study was to investigate whether interleukin-1 (IL-1) gene polymorphisms are associated with susceptibility to Behcet's disease (BD) and clinical manifestations of the disease. Methods: In this cross-sectional study, we enrolled 110 patients with BD and age-and gender-matched 120 healthy controls. Five polymorphic regions of the IL-1 gene including rs 1800587 (IL1A-889 C/T), rs 2234650 (IL1R1), rs 16944 (IL1B-511 C/T), rs 315952 (IL1RN), and rs 1143634 (IL1B-3954 C/T) were analyzed by using the real-time polymerase chain reaction system. Allele frequencies and genotypes were compared between groups. p = 0.05 was accepted as statistically significant. Results: The mean age of the patients with BD was 41 +/- 12.4 years. The two groups were similar in terms of the age and gender distribution. The vast majority of BD patients had mucocutaneous involvement. The mean disease duration was 83.7 +/- 67.8 months among the patients. The frequencies of each polymorphism in the IL-1 gene were similar between patients with BD and healthy controls. Conclusion: The frequencies of variable IL-1 gene polymorphisms were similar between patients with BD and healthy controls.project of the Pamukkale University Scientific Research Projects Coordination Unit [2014 TPF034]Y This study was also supported by the 2014 TPF034 project of the Pamukkale University Scientific Research Projects Coordination Unit

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