Search for dissertations about: "Transmission-Disequilibrium Test"

Found 5 swedish dissertations containing the words Transmission-Disequilibrium Test.

2. 1. 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

4. 2. Search for Type 2 Diabetes Susceptibility Genes Using Multiple Approaches

   Author : Cecilia Lindgren; Malmö Institutionen för kliniska vetenskaper; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; single nucleotide polymorphism SNP ; transmission-disequilibrium test TDT ; genetic variation; single strand conformational polymorphism SSCP ; gene expression; insulin; glucose; genome-wide scan; linkage; genetic association; Type 2 diabetes; early onset diabetes EOD ; sekretion; diabetologi; Endokrinologi; diabetology; Endocrinology; secreting systems; signal-to-noise ratio SNR ;

   Abstract : Type 2 diabetes mellitus is a multifactorial disorder characterized by chronic hyperglycemia resulting from pancreatic dysfunction and insulin resistance. It is a common disorder with a complex pattern of inheritance, likely to reflect the influence of multiple genetic and environmental factors on the diabetes risk. READ MORE

5. 3. Candidate gene analyses and genome-wide screens in multiple sclerosis

   Author : Vilmantas Giedraitis; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Specific disease causing mutations have been identified for many disorders. Most of these disorders are of Mendelian origin and there have been very few successful attempts in the genetic dissection of complex traits. READ MORE

6. 4. Epidemiological and genetic studies of muliple sclerosis with focus on the Swedish county of Värmland

   Author : Margarita Callander; Anders Svenningsson; Linköpings universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Genetic predisposition to disease; Genetic predisposition to disease; Cluster analysis; Muliple sclerosis; Pedigree; Medical genetics; Medicinsk genetik;

   Abstract : The aim of this study was to perform detailed investigations of a presumed high-risk area, namely the county of Värmland, to see if previous results from our group indicating a high frequency of multiple sclerosis (MS) could be confirmed. We soon identified an aggregation of MS cases in the parish of Lysvik located in the north of Värmland and initiated epidemiological and genetical analyses of the population. READ MORE

7. 5. Genetic studies in rheumatoid arthritis : familial studies and analysis of relationships to atherothrombotic comorbidity

   Author : Lisbeth Ärlestig; Solbritt Rantapää Dahlqvist; Dan Holmberg; Åsa Torinsson Naluai; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Rheumatoid arthritis; genetics; familial studies; ACPA and cardiovascular co-morbidity; reumatologi; rheumatology; genetik; Genetics; cardiovascular disease; hjärt- och kärlforskning;

   Abstract : Background. Rheumatoid arthritis (RA) is an autoimmune disease mainly affecting the joints but has also extra articular manifestations and an increased cardiovascular (CV) co-morbidity. Rheumatoid factor (RF) and antibodies against citrullinated proteins/peptides (ACPA) are diagnostically important and are related to a more severe disease. READ MORE