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Genetic determination of type 2 diabetes mellitus, analysis of selected genes - THADA, MAEA, JAZF1 and ARAP1
Procházková, Iveta ; Hubáček, Jaroslav (advisor) ; Kaňková, Kateřina (referee)
Introduction: Type 2 diabetes mellitus (T2DM) is a worldwide spread disease of affluence which prevalence has been growing. Although, the probability of its manifestation is being linked above all with environmental factors, genetic susceptibility plays an important role too. The aim of this thesis was to find out the association of four polymorphisms with the risk of T2DM manifestation in Czech population. Polymorphisms rs10203174 THADA, rs6819243 MAEA, rs849135 JAZF1 and rs1552224 ARAP1 (CENTD2) were chosen based on their risk in British population. Methodology: We studied groups of 712 Czech patients with T2DM and 752 healthy controls selected as a random sample of Czech population in the post-MONICA study. For a genotypisation rs10203174 and rs6819243 we used the PCR-RFLP method. For an analysis of genotypes rs849135 and rs1552224 was used the real-time PCR method. The results were analysed via odds ratio (OR) a chi-square test. Results: In case of the rs1552224 variant, the risk was proved with statistical significance (P = 0,01). The value of OR for the risk allele T is 1,37 (95% CI 1,07-1,75). In case of the polymorphisms rs10203174, rs6819243 and rs849135 no significant association with the disease was proved. For rs10203174 the value of OR of the allele C is 1,20 (95% CI 0,91-1,56, P = 0,20), OR of...
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Diabetes mellitus, environmental and genetic risk factors
Procházková, Iveta ; Hubáček, Jaroslav (advisor) ; Kovacs, Peter (referee)
Diabetes mellitus (DM) is globally widespread group of diseases characterised by increased blood glucose. There are several types, the most common is type 1 DM and type 2 DM. Multifactorial polygenic inheritance is typical for DM with exeption of couple monogenic forms. Type 1 DM is autoimmune form usually manifesting since childhood. Its manifestation is influenced mostly by HLA system genotype, but also by non-HLA genes together with environmental factors, amongst which nutrition of the children is predominant. Type 2 DM develops usually in adulthood. The development is influenced by obesity and lack of movement, but the individual sensitivity to type 2 DM is also genetically determined. Main genetic factors are variations in genes TCF7L2 and FTO as well as in genes coding cyclin dependent kinases.
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