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Showing result 1 - 5 of 13 swedish dissertations matching the above criteria.

2. 1. Functional Role of Genetic Polymorphisms Associated with Systemic Lupus Erythematosus

   Author : Sara E Löfgren; Ulf Gyllensten; Jan Hillert; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autoimmunity; systemic lupus erythematosus; genetic association; single nucleotide polymorphism; IRF5; CD226; miR-146a; Medical Science; Medicinsk vetenskap; Medical Genetics; Medicinsk genetik;

   Abstract : Systemic lupus erythematosus (SLE) is a chronic and complex autoimmune disorder characterized by a failure in the mechanism of self-tolerance and production of autoantibodies, potentially affecting any organ in the body. The genetic factors behind the disease have been extensively studied in the past years and to date a list of more than 30 loci have been associated with SLE. READ MORE

4. 2. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

   Author : Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

   Abstract : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. READ MORE

5. 3. The Genetics of Systemic Lupus Erythematosus : The Specificity of IRF5 to SLE

   Author : MV Prasad Linga Reddy; Marta Alarcön Riquelme; Dan Holmberg; Uppsala universitet; []
   Keywords : Molecular genetics; Systemic lupus erythematosus; Interferon regulatory factor 5; Transmission-Disequilibrium Test; Family-based association test; Linkage Disequilibrium; Hardy-Weinberg equilibrium; Genetik;

   Abstract : The breakdown of self-tolerance is the main driving force behind susceptibility to SLE. When this occurs, T and B cells are activated in an uncontrolled manner and produce autoantibodies against self fragmented DNA, RNA and sometimes other parts of the cell such as cardiolipin, phosphatidylserine, etc. READ MORE

6. 4. Genetic Variation and Expression of the IRF5 Gene in Autoimmune Diseases

   Author : Gudlaug Thora Kristjansdottir; Ann-Christine Syvänen; Lars Rönnblom; Gunnel Nordmark; Unnur Þorsteinsdóttir; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical genetics; Medicinsk genetik; Genetics; genetik;

   Abstract : The interferon regulatory factor 5 (IRF5) gene encodes a transcription factor that plays an important role in the innate as well as in the cell-mediated immune response. The IRF5 gene has received considerable attention since it was shown to be associated with two autoimmune diseases; systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). READ MORE

7. 5. DNA Sequence Variants in Human Autoimmune Diseases

   Author : Chuan Wang; Ann-Christine Syvänen; Anna Lobell; Jeffrey C. Barrett; Uppsala universitet; []
   Keywords : Association study; Gene resequencing; ChIP-seq; Type I interferon system; Systemic lupus erythematosus; Rheumatoid arthritis; Asthma; Medicinsk genetik; Medical Genetics; Molekylär genetik; Molecular Genetics;

   Abstract : Human autoimmune diseases are hallmarked by inappropriate loss-of-tolerance and self-attacking response of the immune system. Studies included in this thesis are focusing on the implication and functional impact of genetic factors in three autoimmune diseases rheumatoid arthritis (RA), asthma, and systemic lupus erythematosus (SLE). READ MORE