Sökning: "tagSNP"

Hittade 3 avhandlingar innehållade ordet tagSNP.

  1. 1. Genetic and Genomic Analysis of DNA Sequence Variation

    Författare :Per Erik Lundmark; Ann-Christine Syvänen; Karl Michaelsson; Gert-Jan B. van Ommen; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP; NPC1; association study; allele specific expression; tagSNP; non-coding RNA; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ; Molekylär medicin; Molecular Medicine;

    Sammanfattning : The studies in this thesis describe the application of genotyping and allele specific expression analysis to genetic studies. The role of the gene NPC1 in Triglyceride metabolism was explored in mouse models and in humans on the population level in study I. LÄS MER

  2. 2. Genetic determinants of postmenopausal breast and endometrial cancer

    Författare :Einarsdottir Kristjana; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Sammanfattning : Breast cancer is overall the most common cancer in women worldwide and endometrial cancer is the most common gynaecological cancer in the industrialized world. History of a first-degree relative with breast or endometrial cancer has been related to a twofold increase in risk of the respective diseases. LÄS MER

  3. 3. Genetic analysis of IL7R and other immune-regulatory genes in multiple sclerosis

    Författare :Frida Lundmark; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Sammanfattning : Multiple sclerosis is a chronic neurological disease, where both genetic and environmental factors are influencing the susceptibility and pathogenesis. Epidemiological studies have clearly demonstrated the existence of a genetic component by comparing the degree of shared genetic material and the risk of MS, where the degree of shared genetic material clearly correlates with the risk of MS. LÄS MER