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  1. 1. Polyglandular Autoimmune (PGA) Syndromes and associations to sarcoidosis

    Författare :Konstantinos I Papadopoulos; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; angiotensin converting enzyme ACE ; DQB1; DRB1; HLA; H K ATPase; antigliadin; autoantibodies; pernicious anaemia; coeliac disease; sarcoidosis; Hashimoto thyroiditis; Graves disease; autoimmune thyroid disease; Addison s disease; Polyglandular autoimmune PGA syndromes; autoimmunity; ACE gene polymorphism; Immunology; serology; transplantation; Immunologi; serologi;

    Sammanfattning : Polyglandular Autoimmune (PGA) syndrome type II in idiopathic Addison's disease: In a retrospective study of idiopathic Ad-dison's disease (median age at diagnosis 32.5 years, range 8-62; median observation time 17 years, range 0.5-41), 50% met the criteria for PGA syndrome type II. In PGA syndrome type II, 73% had ATD and 41% had IDDM. LÄS MER

  3. 2. Multiplex HLA-DR-DQ genotyping : for genetic epidemiology and clinical risk assessment

    Författare :Ewa Lavant; Malmö högskola; []
    Nyckelord :HLA-DRB1; HLA-DQB1; HLA-DQA1; PCR-SSP; type 1 diabetes; celiac disease; autoimmune disease; capillary gel electrophoresis; genotyping;

    Sammanfattning : The human leukocyte antigens (HLA) are highly polymorphic cell surface proteins encoded in the major histocompatibility complex (MHC) region on chromosome 6. The HLA system has been well known as transplantation antigens but the primary biological role of the HLA molecules is regulation of immune response by presenting peptide fragments to T-lymphocytes. LÄS MER

  4. 3. Candidate Genes for Late Diabetic Complications

    Författare :Eero Lindholm; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; TNF; sekretion; LTA; Endocrinology; nephropathy; diabetes mellitus; retinopathy; neuropathy; genetic; UCP; diabetologi; AGER; MHc2TA; HLA-DQB1; Endokrinologi; secreting systems; diabetology;

    Sammanfattning : Diabetes mellitus is a group of metabolic diseases characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both. The new WHO criteria for classification of diabetes takes into account also clinical stages dividing the diabetic patients into noninsulin requiring (NIR), insulin requiring for control (IRC) and insulin requiring for survival (IRS) subgroups. LÄS MER

  5. 4. Population-based analysis of the HLA associated risk for IDDM

    Författare :Ingrid Kockum; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Insulin-dependent diabetes mellitus; HLA-DR; HLA-DQAl; HLA-DQBl; predispositional allele test; absolute risk; relative predispositional effect; transmission rates; non-inherited maternal haplotypes.;

    Sammanfattning : Insulin dependent diabetes (IDDM) is one of the most common chronic illnesses among children and young adults in Sweden. The disease has a complex pattern of inheritance and environmental factors are important. The strongest linkage to IDDM is found on chromosome 6p21 in the Major Histocompatibility Complex (MHC) region. LÄS MER

  7. 5. Genetic Risk Factors for Cervical Carcinoma in situ

    Författare :Anna Beskow; Peter L Stern; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Cervical carcinoma; human papillomavirus; viral load; long-term infection; HLA class II; p53; E6 variant; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : Oncogenic human papillomaviruses (HPVs) are implicated in 99.7 % of cervical cancer cases but require the co-operation of other factors. To investigate potential genetic risk factors we have typed the HLA class II DRB1 and DQB1 loci in 478 women diagnosed with cervical carcinoma in situ and in 608 age-matched controls. LÄS MER