Search for dissertations about: "genetic diseases"

Showing result 1 - 5 of 671 swedish dissertations containing the words genetic diseases.

  1. 1. Genetic Determinants of Dyslipidemia

    Author : Tibor V Varga; Genetisk och molekylär epidemiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetic epidemiology; Genetic polymorphism; dyslipidaemia; Cholesterol; Triglyceride; Genetic risk; genetic risk score; Single nucleotide polymorphism; Prediction; Gene-environment interactions; Randomized controlled trial; prospective cohort studies; Observational study; GLACIER Study; Diabetes Prevention Program;

    Abstract : Dyslipidemia is a chronic deviation from normal blood lipid levels that can lead to atherosclerosis and other cardiovascular diseases; dyslipidemia and its sequelae are caused by the complex interplay of genetic and environmental factors. Although circulating concentrations of total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C) and high-density lipoprotein cholesterol (LDL-C) have a strong genetic underpinning, not much is known about the genetic factors that affect long-term deteriorations in lipid concentrations. READ MORE

  2. 2. Molecular genetic studies on cystinuria

    Author : Lotta Harnevik; Peter Söderkvist; Catharina Larsson; Linköpings universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amino acid transport systems; Amino acids diamino; Mutation; Sulphydryl compounds; urine; Cystine; Carrier proteins; Cystinuria; DNA mutational analysis; Dog diseases; genetic; Membrane glycoproteins; Medical genetics; Medicinsk genetik;

    Abstract : Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine. The only clinical manifestation of cystinuria is renal cystine stone formation due to the low solubility of cystine in the urine. READ MORE

  3. 3. Strategies for Identification of Susceptibility Genes in Complex Autoimmune Diseases

    Author : Ludmila Prokunina; Marta Alarcon-Riquelme; Ulf Gyllensten; Juha Kere; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; complex diseases; autoimmune diseases; genetic mapping; functional studies; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune diseases affecting 0.05-2% of the population worldwide. Genetic studies detected linkage with SLE in the 2q37 region, and intensive family-based and case-control association studies in several populations identified that allele A of the SNP PD-1. READ MORE

  4. 4. On certain genetic and metabolic risk factors for carotid stenosis and stroke

    Author : Pär Wanby; Lars Brudin; Martin Carlsson; Milita Crisby; Linköpings universitet; []
    Keywords : AGRICULTURAL SCIENCES; LANTBRUKSVETENSKAPER; LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; Carotid artery diseases; Carrier proteins; genetics; Cerebrovascular accident; Cerebrovascular disorders; Genetic predisposition to disease; Polymorphism; genetic; Medicine; Medicin; Medicin; Medicine;

    Abstract : The present study evaluated genetic and metabolic factors influencing the risk of acute cerebrovascular disease (CVD) and internal carotid artery stenosis (ICA stenosis) in a Swedish community. The threonine (T) containing protein of the FABP2 A54T gene polymorphism has a greater affinity for long chain fatty acids (FFAs) than the alanine (A) containing protein. READ MORE

  5. 5. Modelling and genetic correction of liver genetic diseases

    Author : Mihaela Zabulica; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The urea cycle is a set of biochemical reactions that converts highly toxic ammonia into urea for excretion. Deficiencies in any of the genes of the cycle can be life-threatening, with liver transplantation currently being the only definitive treatment. READ MORE