Author/Editor | Vidan-Jeras, Blanka | |
Title | Vpliv polimorfizma in vezavnega neravnovesja genov HLA na humoralno imunsko odzivnost in na nekatere bolezni monogenskega in poligenskega izvora v slovenski populaciji | |
Translated title | The influence of HLA polymorphism and linkage disequilibrium on humoral immune responsiveness and some monogenic and polygenic deseases in Slovenian population | |
Type | monografija | |
Place | Ljubljana | |
Publisher | Medicinska fakulteta | |
Publication year | 2003 | |
Volume | str. 113 | |
Language | slo | |
Abstract | The HLA system is among the most polymorphic parts of he human genome comprising genes appearing as distinct variants. A great number of alleles at several loci and many possible combinations provide for an efficient defence against infectious diseases in the individual as well as in the population. On the other hand, intra-individual differences regarding HLA alleles are a great obstacle in clinical transplantation of organs and tissues. Considerable differences in HLA allele and haplotype frequencies have been established in different populations, the latter influenced by the linkage disequilibrium between alleles at different loci. Molecules encoded by HLA alleles are expressed on a surface of nucleated cells where they function as antigens which present immunogenic peptides to different functional subsets of T lymphocytes. Not all allelic products are equally efficient in performing this task. A decisive role in this event is played by the amino acid sequence of the immungenic peptide. Although specific for a foreign peptide, antigen receptors of T lymphocytes can crossreact with an autologous peptide with a similar structural motif. It is commonly believed that molecular mimicry has to be considered when investigating mechanisms underlying autoimmunity and /or inflammation. The HLA and disease association has been extensively studied and confirmed in two polygenic diseases, the type 1 diabetes and lupus erythematosus. In both of them certain HLA genes contribute toward the inherited risk involved in the outburst and development of the disease . The distinction in the presentation of peptides by different HLA alloantigens can lead to a variety of immune autoantibodies found in patients with type 1 diabetes or lupus erythematosus. The same mechanisms can be expected to influence the immune responsiveness to recombinant peptides used in protective vaccination, an example being vaccination to hepatitis B. (Abstract truncated at 2000 characters). | |
Descriptors | POLYMORPHISM (GENETICS) GENES, MHC CLASS I GENES, MHC CLASS II ANTIBODY FORMATION HISTOCOMPATIBILITY TESTING HLA ANTIGENS ALLELES HAPLOTYPES DIABETES MELLITUS, INSULIN-DEPENDENT HEPATITIS B VACCINES POLYMERASE CHAIN REACTION HLA-DR ANTIGENS HLA-DQ ANTIGENS HLA-B ANTIGENS GENETICS, POPULATION CYTOCHROME P-450 LUPUS ERYTHEMATOSUS, SYSTEMIC HYPERTENSION |