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Sökning: WFRF:(Witte T.) > Witte T

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1.
  • Diaz-Gallo, L. M., et al. (författare)
  • Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis
  • 2011
  • Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 70:3, s. 454-462
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective Two functional single nucleotide polymorphisms (SNP) in the PTPN22 gene (rs24746601 and rs33996649) have been associated with autoimmunity. The aim of this study was to investigate the role of the R263Q SNP for the first time and to re-evaluate the role of the R620W SNP in the genetic predisposition to systemic sclerosis (SSc) susceptibility and clinical phenotypes. Methods 3422 SSc patients (2020 with limited cutaneous SSc and 1208 with diffuse cutaneous SSc) and 3638 healthy controls of Caucasian ancestry from an initial case--control set of Spain and seven additional independent replication cohorts were included in our study. Both rs33996649 and rs2476601 PTPN22 polymorphisms were genotyped by TaqMan allelic discrimination assay. A meta-analysis was performed to test the overall effect of these PTPN22 polymorphisms in SSc. Results The meta-analysis revealed evidence of association of the rs2476601 T allele with SSc susceptibility (p(FDRcorrected) = 0.03 pooled, OR 1.15, 95% CI 1.03 to 1.28). In addition, the rs2476601 T allele was significantly associated with anticentromere-positive status (p(FDRcorrected) = 0.02 pooled, OR 1.22, 95% CI 1.05 to 1.42). Although the rs33996649 A allele was significantly associated with SSc in the Spanish population (p(FDRcorrected) = 0.04, OR 0.58, 95% CI 0.36 to 0.92), this association was not confirmed in the meta-analysis (p = 0.36 pooled, OR 0.89, 95% CI 0.72 to 1.1). Conclusion The study suggests that the PTPN22 R620W polymorphism influences SSc genetic susceptibility but the novel R263Q genetic variant does not. These data strengthen evidence that the R620W mutation is a common risk factor in autoimmune diseases.
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  • Khatri, B., et al. (författare)
  • Genome-wide association study identifies Sjogren's risk loci with functional implications in immune and glandular cells
  • 2022
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Sjogren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjogren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. The genetic architecture underlying Sjogren's syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.
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  • Saussele, S., et al. (författare)
  • Klinische Forschung im „European LeukemiaNet”
  • 2006
  • Ingår i: Deutsche Medizinische Wochenschrift. - : Georg Thieme Verlag KG. - 0012-0472 .- 1439-4413. ; 131:43, s. 2423-2426
  • Tidskriftsartikel (refereegranskat)abstract
    • Because of their mortality, morbidity and incidence in all age groups, leukemias represent a challenge and a cost factor for society. In research, they serve as models for a variety of diseases and have a pivotal function in basic research and for patient care. The European LeukemiaNet (ELN) is a EU funded Network of excellence. Its major goal is the construction of an exemplary cooperative leukemia network for the improvement of medical care and of health related research in acute and chronic leukemias. This is achieved by improved mechanisms of cooperation among 78 national leukemia study groups and their 83 interdisciplinary partner groups that deal with the leukemias in research and in patient care in 22 countries. The network integrates about 1000 researchers in 125 participating institutions. In practice, cooperation between clinical and research groups is mediated by various instruments that improve communication, flow of information and interdisciplinary cooperation, and also increase information transfer from top research institutions to clinical translation. The improved cooperation and the accelerated information transfer from the „bench to the bedside” results in a better patient care that ultimately results in improved survival of patients and in superior competitiveness of involved research workers and clinicians. The major goals are: Establishing common information and communication structures, Creation of European networks for each leukemia Establishing European platforms for each inter-disciplinary speciality Performing clinical trials on an European level Establishing European leukemia registries Developing common definitions and standards Developing guidelines and meta-analyses Spread of excellence To reach these goals the network is organized in 17 Workpackages (WPs) each of which is subdivided into several components and deliverables. The WPs represent central services, set up European networks for each major leukemia or related syndrome and interdisciplinary European platforms for diagnostic specialities, and support treatment research, registries, meta-analyses and guidelines. After the second year of networking, the main structures concerning management, communication and information of the ELN have been established and consolidated. Web-based information is available on the central website (www.leukemia-net.org). Communication is accomplished through annual symposia, regular network and WP-meetings (nearly 60 in 2005), website, and the biannual newsletters. A central randomization service and registries are available for distinct leukemia entities, and a prototype of the electronic data capture facility service has been implemented. Several studies were initiated and are ongoing on a European level. Nearly all WPs have prepared or are preparing guidelines or consensus papers, e. g. guidelines on CML therapy, definitions for transplantation associated microangiopathy (TAM), therapy of infections in leukemias, harmonization of molecular monitoring in CML and a consensus on microarray-technology based diagnostics in leukemias. The main goals of the second funding period have been achieved, and thus the ELN is well prepared for further progress in its goals to improve diagnosis and treatment of the leukemias.
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  • Yu, X., et al. (författare)
  • Association of UCP2 - 866 G/A polymorphism with chronic inflammatory diseases
  • 2009
  • Ingår i: Genes and Immunity. - : Springer Science and Business Media LLC. - 1466-4879 .- 1476-5470. ; 10:6, s. 601-605
  • Tidskriftsartikel (refereegranskat)abstract
    • We reported earlier that two mitochondrial gene polymorphisms, UCP2 -866 G/A (rs659366) and mtDNA nt13708 G/A (rs28359178), are associated with multiple sclerosis (MS). Here we aim to investigate whether these functional polymorphisms contribute to other eight chronic inflammatory diseases, including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Wegener' granulomatosis (WG), Churg-Strauss syndrome (CSS), Crohn's disease (CD), ulcerative colitis (UC), primary sclerosing cholangitis (PSC) and psoriasis. Compared with individual control panels, the UCP2 -866 G/A polymorphism was associated with RA and SLE, and the mtDNA nt13708 G/A polymorphism with RA. Compared with combined controls, the UCP2 -866 G/A polymorphism was associated with SLE, WG, CD and UC. When all eight disease panels and the original MS panel were combined in a meta-analysis, the UCP2 was associated with chronic inflammatory diseases in terms of either alleles (odds ratio (OR)=0.91, 95% confidence interval (95% CI): 0.86-0.96), P=0.0003) or genotypes (OR=0.88, (95% CI: 0.82-0.95), P=0.0008), with the -866A allele associated with a decreased risk to diseases. As the -866A allele increases gene expression, our findings suggest a protective role of the UCP2 protein in chronic inflammatory diseases.
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  • Acosta-Herrera, M, et al. (författare)
  • Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
  • 2019
  • Ingår i: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 78:3, s. 311-319
  • Tidskriftsartikel (refereegranskat)abstract
    • Immune-mediated inflammatory diseases (IMIDs) are heterogeneous and complex conditions with overlapping clinical symptoms and elevated familial aggregation, which suggests the existence of a shared genetic component. In order to identify this genetic background in a systematic fashion, we performed the first cross-disease genome-wide meta-analysis in systemic seropositive rheumatic diseases, namely, systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis and idiopathic inflammatory myopathies.MethodsWe meta-analysed ~6.5 million single nucleotide polymorphisms in 11 678 cases and 19 704 non-affected controls of European descent populations. The functional roles of the associated variants were interrogated using publicly available databases.ResultsOur analysis revealed five shared genome-wide significant independent loci that had not been previously associated with these diseases: NAB1, KPNA4-ARL14, DGQK, LIMK1 and PRR12. All of these loci are related with immune processes such as interferon and epidermal growth factor signalling, response to methotrexate, cytoskeleton dynamics and coagulation cascade. Remarkably, several of the associated loci are known key players in autoimmunity, which supports the validity of our results. All the associated variants showed significant functional enrichment in DNase hypersensitivity sites, chromatin states and histone marks in relevant immune cells, including shared expression quantitative trait loci. Additionally, our results were significantly enriched in drugs that are being tested for the treatment of the diseases under study.ConclusionsWe have identified shared new risk loci with functional value across diseases and pinpoint new potential candidate loci that could be further investigated. Our results highlight the potential of drug repositioning among related systemic seropositive rheumatic IMIDs.
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