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Genetic predisposition to celiac disease
Cibuľová, Anna ; Černá, Marie (advisor) ; Holáň, Vladimír (referee)
5 Abstract Coeliac disease is a chronic intestinal autoimmune desease that is diagnosed in genetically predisposed people. This disease is characterized by inadequate immune response to gluten, which is contained in some cereals. The patients have to keep a strict dietary regime. The genetic predisposition is based on possession allels HLA-DQ2 and HLA-DQ8. The remainder genetic risc is unknown, but with regard to autoimmune character of disease, it is supposed that genetic predisposition can be included in polymorphisms of genes, which participate in a route or regulation of immune response. AIMS: We studied a correlation between phenotype and genotype in members of three-generation family, which is affected of coeliac disease and other autoimmune diseases. We tried to verify a correlation between phenotype and some genotypes. We tested the HLA-DQB1 and HLA-DRB1 alleles, the polymorphisms C1858T in PTPN22 gene, A1188C in IL12B gene and C2029T in TLR2 gene. We measured an expression of TLR2 protein and TLR2 mRNA as well. METHODS: Testing of HLA-molecules was performed using the PCR-SSP technique. Testing of polymorphisms in PTPN22 and IL12B genes was performed using PCR-RFLP and PCR-SSP techniques and the findings was checked using sequencing technique. The expression of TLR2 protein was measeured using flow...
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