Search for dissertations about: "Common variants"

Showing result 1 - 5 of 358 swedish dissertations containing the words Common variants.

2. 1. Molecular Epidemiology of Breast Cancer

   Author : Sophia Harlid; Malmö Klinisk mikrobiologi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast Cancer; Heritability; Methylation potential; CpG-SNPs; Common variants; Gene-environment interactions;

   Abstract : Hereditary breast cancer constitutes a considerable fraction of the total number of breast cancer cases occurring each year. Up until recently very few breast cancer predisposing genes were known, but many new common polymorphisms contributing to increased cancer susceptibility are continuously being identified. READ MORE

4. 2. Heredity in Parkinson's disease. From rare mutations to common genetic risk factors

   Author : Andreas Puschmann; Sektion IV; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s disease; parkinsonism; genetics; alpha-synuclein; SNCA duplicaion; SNCA triplication; LRRK2; PARKIN; PARK2; VPS35; EIF4G1; rare variants; digenic inheritance; heritability;

   Abstract : This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled and evaluated. READ MORE

5. 3. The effect of common and rare variants on inflammatory traits and diseases

   Author : Julia Höglund; Åsa Johansson; Matthew Robinson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; inflammation; biomarkers; WES; WGS; NSPHS; UK Biobank; association study;

   Abstract : Genome wide association studies (GWAS) have identified thousands of loci associated to an immense number of traits and diseases. Most associations have been to common variants, but rare variant associations are progressively being reported. READ MORE

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

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

   Abstract : 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. READ MORE

7. 5. Multiple sclerosis : from genetic variants to biomarkers

   Author : Sahl Khalid Bedri; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Multiple sclerosis (MS) is a common chronic autoimmune and neurodegenerative disease of the central nervous system (CNS). MS is a debilitating disease that affects young adults, especially females. Why we develop MS? Is thought to be a consequence of our genes and the environment. READ MORE