Search for dissertations about: "GWAS"

Showing result 6 - 10 of 108 swedish dissertations containing the word GWAS.

  2. 6. Genetic linkage and association studies in celiac disease: discoveries from whole genome analysis

    Author : Svetlana Adamovic; Göteborgs universitet; []
    Keywords : Celiac Disease; genome-wide scan; linkage; association; GWAS; complex disease; autoimmune; 5q31-33; HLA; IL2 IL21;

    Abstract : Celiac Disease (CD) or Gluten Sensitive Enteropathy (GSE) is a life-long disorder. It is characterized by inflammation in the small intestine of genetically predisposed individuals caused by inappropriate immune response to gluten, a protein enriched in some of our common grains (wheat, rye and barley). READ MORE

  4. 7. Genetic Predisposition to Sporadic and Familial Multiple Myeloma

    Author : Britt-Marie Halvarsson; Avdelningen för hematologi och transfusionsmedicin; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; multiple myeloma; genetics; inherited predisposition; familial multiple myeloma; GWAS; polygenic risk score;

    Abstract : Multiple Myeloma (MM) is the second most common hematological malignancy. It is defined by an uncontrolled growth of plasma cells, usually in the bone marrow. Clinically it is complicated by hypercalcemia, renal failure, anaemia, and bone pain. READ MORE

  5. 8. 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. 9. Genetic Studies in Dogs Implicate Novel Genes Involved in Atopic Dermatitis and IgA Deficiency

    Author : Katarina Tengvall; Kerstin Lindblad-Toh; Göran Andersson; Åke Hedhammar; Gerli Rosengren Pielberg; Ingrid Skelton Kockum; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; canine model; genetic association; immunogenetics; atopic dermatitis; IgA deficiency; Molekylär genetik; Molecular Genetics;

    Abstract : This thesis presents genetic studies of atopic dermatitis (AD) and IgA deficiency in dogs.AD is a chronic inflammatory and pruritic skin disorder caused by allergic reactions against environmental allergens. Both genetic and environmental factors are involved in the development of Canine AD (CAD) and human AD. READ MORE

  7. 10. Genome-Wide Studies of Transcriptional Regulation in Human Liver Cells by High-throughput Sequencing

    Author : Madhusudhan Reddy Bysani; Claes Wadelius; Mattias Mannervik; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ChIP-seq; Transcription factors; Alcoholic steatohepatitis; Genome-wide; GWAS; SNPs;

    Abstract : The human genome contains slightly more than 20 000 genes that are expressed in a tissue specific manner. Transcription factors play a key role in gene regulation. By mapping the transcription factor binding sites genome-wide we can understand their role in different biological processes. READ MORE