Sökning: "Genetic association studies"

Visar resultat 11 - 15 av 636 avhandlingar innehållade orden Genetic association studies.

  1. 11. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

    Författare :Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER

  2. 12. Genetic studies of hypospadias

    Författare :Louise Frisén; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Hypospadias; genetic; complex trait; low birth weight; twin study; segregation analysis; genome-wide linkage analysis; mutation analysis; HOXA13 gene;

    Sammanfattning : Hypospadias is defined as an abnormal opening of the urethra on the underside of the penis. It is a frequently found malformation with an incidence of 3 per 1000 males. The aim of this thesis was to identify genetic and environmental factors in the pathogenesis of hypospadias. LÄS MER

  3. 13. Genetic association studies in allergic rhinitis

    Författare :Daniel Carlberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Allergic rhinitis (AR) is a global health problem that causes major disability worldwide. Nasal obstruction, secretion and itching are characterizing features of the disease. The development and severity of AR are determined by a complex interaction between environmental and genetic factors and the heritability for AR has been estimated to be high. LÄS MER

  4. 14. Estrogen signaling in stroke : genetic and experimental studies

    Författare :Magnus Strand; Tommy Olsson; Jan Hillert; Umeå universitet; []
    Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; intracerebral hemorrhage; ischemic stroke; genetics; ERα; OPG; 17β-estradiol; enriched environment; learning and memory; hippocampus; NGFI-A; Medicine; Medicin;

    Sammanfattning : Stroke is a common and multifactorial disease influenced by genetic and environmental risk factors. It is a highly heterogeneous entity consisting of two main types, ischemic (80%) and hemorrhagic (20%) stroke. The most common form of hemorrhagic stroke is intracerebral hemorrhage (ICH). LÄS MER

  5. 15. Population genetic studies of psoriasis

    Författare :Annica Inerot; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; psoriasis; population genetics; age of onset; family studies; associated diseases; clinical examination; arthritis; HLA-Cw6;

    Sammanfattning : Psoriasis is a genetically determined, common skin disease affecting about 3 % of the population. The inheritance pattern has earlier been unclear. In collaboration with the Swedish Psoriasis Association, we have collected information on the occurrence of psoriasis in the families of 11,366 members of the Association. LÄS MER