Sökning: "GWAS"

Visar resultat 1 - 5 av 94 avhandlingar innehållade ordet GWAS.

  1. 1. Translating Cardiac and Cardiometabolic GWAS Using Zebrafish

    Författare :Benedikt von der Heyde; Marcel den Hoed; Anastasia Emmanouilidou; Erik Ingelsson; Shawn Burgess; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; Zebrafish; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Genome-wide association studies (GWAS) have identified thousands of loci associated with cardiac and cardiometabolic traits. However, the trait-associated variants usually do not clearly point to causal gene(s), mechanism(s) or tissue(s). Model systems that allow for a comprehensive and quick candidate gene screening are necessary, ideally in vivo. LÄS MER

  2. 2. Genetic predisposition for Multiple Myeloma. Identification and functional characterization of risk variants

    Författare :Laura Duran Lozano; Avdelningen för hematologi och transfusionsmedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GWAS; multiple myeloma; CRISPR Cas9; cancer genetics; functional characterization; Germline variants;

    Sammanfattning : Multiple myeloma (MM) is a blood malignancy originating from plasma cells. First-degree relatives of patients with MM have two- to four-fold higher risk of MM. However, the molecular basis remains largely unknown. This Ph. LÄS MER

  3. 3. Analysis of inherited and somatic variants to decipher canine complex traits

    Författare :Kate Megquier; Kerstin Lindblad-Toh; Ingegerd Elvers; David Sargan; Uppsala universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP; NATURVETENSKAP; NATURAL SCIENCES; dog; genetics; GWAS; exome; cancer; DM;

    Sammanfattning : This thesis presents several investigations of the dog as a model for complex diseases, focusing on cancers and the effect of genetic risk factors on clinical presentation.In Papers I and II, we performed genome-wide association studies (GWAS) to identify germline risk factors predisposing US golden retrievers to hemangiosarcoma (HSA) and B-cell lymphoma (BLSA). LÄS MER

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

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

    Sammanfattning : 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). LÄS MER

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

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

    Sammanfattning : 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. LÄS MER