Sökning: "genetic variants"

Visar resultat 1 - 5 av 599 avhandlingar innehållade orden genetic variants.

1. 1. Genetic Determinants of Dyslipidemia

   Författare :Tibor V Varga; Genetisk och molekylär epidemiologi; []
   Nyckelord :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;

   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

3. 2. Population genetic analyses in the orchid genus Gymnadenia : a conservation genetic perspective

   Författare :Susanne Gustafsson; Pia Mutikainen; Uppsala universitet; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Genetic engineering; Orchidaceae; Gymnadenia; conservation; microsatellites; genetic structure; mating pattern; Genteknik; Genetic engineering including functional genomics; Genteknik inkl. funktionsgenomik; naturvårdsbiologi; Conservation Biology;

   Sammanfattning : Small populations are facing a particular risk of extinction due to a lack of appropriate genetic diversity and associated negative effects, factors dealt with in the discipline of conservation genetics. Many orchid species exhibit characteristics that make them a perfect study object in the scope of conservation genetics. LÄS MER

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

   Författare :Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

5. 4. Genetic Risk Factors for Systemic Lupus Erythematosus : From Candidate Genes to Functional Variants

   Författare :Anna-Karin Abelson; Marta Alarcón-Riquelme; Holger Luthman; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic Lupus Erythematosus; SLE; association study; complex disease; genetic; Medical genetics; Medicinsk genetik;

   Sammanfattning : The aim of this thesis has been to identify genetic variants that increase the susceptibility for Systemic Lupus Erythematosus (SLE), an autoimmune disease caused by a complex interplay between various genetic and environmental factors. Five different candidate genes were selected through different strategies, and were analysed for association with SLE in an attempt to distinguish some of the underlying mechanisms of this disease. LÄS MER

7. 5. Genetic Determinants of Obesity in Relation to Diet, Weight Gain and Mortality

   Författare :Gull Rukh; Diabetes - kardiovaskulär sjukdom; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; genetic variants; copy number variants; genetic risk score; BMI; gene-diet interactions; annual weight change; substantial weight gain; sugar-sweetened beverages; mortality; Mendelian randomization;

   Sammanfattning : Obesity is one of the major health concerns that has reached epidemic proportions globally. It is generally believed to be a result of interactions between genetic and environmental factors. LÄS MER