Sökning: "genetic diseases"
Visar resultat 1 - 5 av 717 avhandlingar innehållade orden genetic diseases.
1. Genetic Determinants of Dyslipidemia
Sammanfattning : 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. LÄS MER
2. Molecular genetic studies on cystinuria
Sammanfattning : 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. LÄS MER
3. Population genetic studies of psoriasis
Sammanfattning : Psoriasis is a genetically determined, common skin disease affecting about 3 % of the population. The inheritance pattern has earlier been unclear. In collaboration with the Swedish Psoriasis Association, we have collected information on the occurrence of psoriasis in the families of 11,366 members of the Association. LÄS MER
4. Strategies for Identification of Susceptibility Genes in Complex Autoimmune Diseases
Sammanfattning : 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. LÄS MER
5. On certain genetic and metabolic risk factors for carotid stenosis and stroke
Sammanfattning : 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. LÄS MER