Sökning: "gene polymorphisms"

Visar resultat 6 - 10 av 415 avhandlingar innehållade orden gene polymorphisms.

  1. 6. Hypospadias : gene mapping and candidate gene studied

    Författare :Thi Thai Hanh Trinh; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the urethral folds, abnormal opening of urethra and different degrees of curvature of the penis. In Sweden, the incidence of hypospadias is 1.14 per 300 male live-births according to the annual Swedish Malformation Registry. LÄS MER

  3. 7. Prediction Models and Pharmacogenomics in Adult Growth Hormone Deficiency

    Författare :Edna J L Barbosa; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; growth hormone deficiency; hypopituitarism; growth hormone replacement therapy; prediction models; candidate gene approach; polymorphisms; body composition; growth hormone receptor; lipid metabolism; extracellular water; pharmacogenomics;

    Sammanfattning : The overall aim of this thesis was to study clinical and genetic factors that influence response to growth hormone replacement therapy (GHRT) in GH deficient (GHD) adults. The patients were part of a cohort of adults with hypopituitarism and severe GHD who were studied before and after 12 months of GHRT. LÄS MER

  4. 8. Interaction between dietary factors and genetic risk for lipoprotein traits and cardiovascular disease

    Författare :Sophie Hellstrand; Diabetes - kardiovaskulär sjukdom; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diet; polyunsaturated fatty acids; diet quality index; fatty acid desaturase; blood lipids; lipoproteins; polymorphisms; genetic risk score; gene-diet interaction; cohort; epidemiology; cardiovascular disease;

    Sammanfattning : In previous studies, a high quality diet has been associated with a reduced risk of cardiovascular disease (CVD) compared to a low diet quality, and specific “healthy” diet components, such as polyunsaturated fatty acids (PUFAs), have been hypothesized to reduce the risk of CVD. However, results from epidemiological studies have been conflicting. LÄS MER

  5. 9. Aspects of Vitamin D : Prevalence of deficiency and impact on musculoskeletal parameters

    Författare :Anne Björk; Östen Ljunggren; Gunnar Johansson; Andreas Kindmark; Anna Spångeus; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Vitamin D; CYP2R1; Vitamin D receptor Gene; Polymorphisms; Muscle Strength; Endokrinologi och Diabetologi; Endocrinology and Diabetology;

    Sammanfattning : Vitamin D is central in calcium turnover, and adequate levels are important for skeletal health. It is not clear how large contributions from food and sunlight are in Swedish primary care patients, considering the low radiation of UVB in Sweden and fortification of some foods, and whether differences exist between patients of immigrant and Swedish origin. LÄS MER

  7. 10. Eosinophil Cationic Protein : Expression Levels and Polymorphisms

    Författare :Jonas Byström; Helene Rosenberg; Uppsala universitet; []
    Nyckelord :Medical sciences; Eosinophils; Neutrophils; Monocytes; Macrophages; mRNA; eosinophil cationic protein; DNA; polymorphism; Hodgkin Lymphoma; asthma; allergy; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Clinical Chemistry; klinisk kemi;

    Sammanfattning : The eosinophil cationic protein (ECP) is usually associated with the eosinophil granulocyte. In this thesis the presence and production of this protein has been studied in two other cells. The circulating monocyte was found to contain ECP mRNA and small amounts of ECP, one thousand times less than that found in the eosinophil. LÄS MER