28 research outputs found
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
Evaluation of the relationship between health belief of breast cancer screening and health anxiety; A cross-sectional study
Breast cancer (BC) is the most frequent type of cancer among women. Screening and early diagnosis is crucial for reducing the disease burden. However the screening rates for BC is not at desired levels. Health belief and health anxiety are two conditions that affect participation in cancer screening. The aim of this study is to explore the relationship between health beliefs regarding breast cancer screening and health anxiety among women. This cross-sectional study included 301 women between 20 and 69 years of age who were admitted to the family medicine outpatient clinic. The study data was collected using the Health Anxiety Inventory (HAI) and Champions Health Belief Model Scale (CHBMS). The questionnaires were filled with face-to-face interview technique. To explain the relationship between anxiety and the components of the health belief model a multivariate linear regression model was used. High anxiety levels were positively correlated with the seriousness and health motivation components and negatively correlated with the self-efficacy component of the health belief model related to breast cancer (p [Med-Science 2019; 8(2.000): 343-8
Clinical significance of aortic stiffness, carotid intima-media thickness and serum osteoprotegerin level in rheumatoid arthritis patients
Aim of the work: Cardiovascular diseases represent a major source of morbidity and mortality for patients with rheumatoid arthritis (RA). The increase in aortic stiffness, carotid intima-media thickness (CIMT) and serum osteoprotegerin (OPG) have been shown to be independent risk factors for cardiovascular events. This work aimed to investigate the clinical significance of these parameters in RA patients. Patients and methods: 60 RA patients and 30 control with no primary cardiovascular risk factors were included. Disease activity score (DAS28) was assessed in patients. Aortic stiffness was evaluated by transthoracic echocardiography and CIMT evaluated by Doppler ultrasonography. OPG was determined by ELISA. Results: The 60 RA patients had a mean age of 40.8 ± 8.3 years, disease duration of 6.9 ± 4.9 years and were 46 females and 14 males. In RA patients, serum OPG and CIMT (thickest and mean) were significantly higher than the control (60.5 ± 32.4 pg/ml vs 29.4 ± 16.7 pg/ml, p < 0.001; 0.73 ± 0.18 mm vs 0.63 ± 0.13 mm, p < 0.001; 0.61 ± 0.1 mm vs 0, 56 ± 0.1 mm, p = 0.007, respectively). The aortic stiffness tended to be higher in patients (6.9 ± 4.8 vs 5.2 ± 2.5, p = 0.114) and in males (9.7 ± 7.4) vs females (5.7 ± 3.4, p = 0.013). OPG levels were significantly higher in those with erosions (n = 41) (68.6 ± 34.5 pg/ml vs 49.1 ± 22 pg/ml p = 0.038) and in those seropositive (n = 54) (65.4 ± 32.2 pg/ml vs 36 ± 18.3 pg/ml p = 0.012). In patients, CIMT (thickest and mean) correlated significantly with the aortic stiffness (p = 0.02 and p = 0.04 respectively). Conclusion: RA is an independent risk factor associated with cardiovascular events. For determining this risk, measuring the serum OPG, CIMT and aortic stiffness may be a useful guide. Keywords: Aortic stiffness, Atherosclerosis, Carotid intima-media thickness, Osteoprotegerin, Rheumatoid arthritis, DAS2
Behcet's: A Disease or a Syndrome? Answer from an Expression Profiling Study
Behcet's disease (BD) is a chronic, relapsing, multisystemic inflammatory disorder with unanswered questions regarding its etiology/pathogenesis and classification. Distinct manifestation based subsets, pronounced geographical variations in expression, and discrepant immunological abnormalities raised the question whether Behcet's is "a disease or a syndrome". To answer the preceding question we aimed to display and compare the molecular mechanisms underlying distinct subsets of BD. For this purpose, the expression data of the gene expression profiling and association study on BD by Xavier et al (2013) was retrieved from GEO database and reanalysed by gene expression data analysis/visualization and bioinformatics enrichment tools. There were 15 BD patients (B) and 14 controls (C). Three subsets of BD patients were generated: MB (isolated mucocutaneous manifestations, n = 7), OB (ocular involvement, n = 4), and VB (large vein thrombosis, n = 4). Class comparison analyses yielded the following numbers of differentially expressed genes (DEGs); B vs C: 4, MB vs C: 5, OB vs C: 151, VB vs C: 274, MB vs OB: 215, MB vs VB: 760, OB vs VB: 984. Venn diagram analysis showed that there were no common DEGs in the intersection "MB vs C" boolean AND "OB vs C" boolean AND "VB vs C". Cluster analyses successfully clustered distinct expressions of BD. During gene ontology term enrichment analyses, categories with relevance to IL-8 production (MB vs C) and immune response to microorganisms (OB vs C) were differentially enriched. Distinct subsets of BD display distinct expression profiles and different disease associated pathways. Based on these clear discrepancies, the designation as "Behcet's syndrome" (BS) should be encouraged and future research should take into consideration the immunogenetic heterogeneity of BS subsets. Four gene groups, namely, negative regulators of inflammation (CD69, CLEC12A, CLEC12B, TNFAIP3), neutrophil granule proteins (LTF, OLFM4, AZU1, MMP8, DEFA4, CAMP), antigen processing and presentation proteins (CTSS, ERAP1), and regulators of immune response (LGALS2, BCL10, ITCH, CEACAM8, CD36, IL8, CCL4, EREG, NFKBIZ, CCR2, CD180, KLRC4, NFAT5) appear to be instrumental in BS immunopathogenesis