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Polymorphisms of nutrigenetics-active genes in Vietnamese and Czech population
Pham, Khanh Ha ; Hubáček, Jaroslav (advisor) ; Freiberger, Tomáš (referee)
This Master's thesis analyzes and compares the allele distribution of some polymorphisms within nutrigenetics-active genes in the Czech and Vietnamese population. The theoretic part of this thesis describes the genes along with their polymorphisms that can contribute to the metabolism of some nutrients or which are long known for their association with the onset and manifestation of some metabolic diseases and other pathologic processes. It also discusses the possible causes of positive selection and its impact on the allele and genotype frequenccy of said polymorphisms. The own research is composed of the processes of DNA obtaining and extraction, genetic analysis' methods including PCR-RFLP and Realtime PCR along with the food frequency questionnaire (FFQ) method. Results of the analyses and questionnaire are statistically evaluated and presented with the aid of tables and graphs. The discussion brings some possible causes for said outcomes. The results show that the distribution of the risk alleles of observed polymorphisms are usually lower in the Vietnamese community than it is in the Czech population especially within: the FTO gene which can predict the development of obesity, the CTF7L2 gene which is associated with type 2 diabetes, in ADH1B which can regulate alcohol consumption and lastly...
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Variability in LPA gene transcription regulatory sequences
Zídková, Kateřina ; Češka, Richard (advisor) ; Hubáček, Jaroslav (referee) ; Freiberger, Tomáš (referee)
Charles University in Prague, The First Faculty of Medicine Thesis: Variability in LPA gene transcription regulatory sequences Name: Mgr. Kateřina Zídková Thesis Adviser: Prof. Richard Češka, M.D., Ph.D. Consulting Thesis Adviser: Assoc. Prof. Milada Kohoutová, M.D., Ph.D. Summury of Doctorate thesis Increased Lp(a) concentration is an independent risk factor for premature atherosclerosis. The Lp(a) concentration is almost entirely genetically determined with an exclusive linkage to a unique locus, the gene for apo(a), so called LPA locus. Nevertheless Lp(a) concentrations varies widely between individuals in all populations studied so far. There is a LPA gene size heterogeneity (KLPAIV type 2 repetition) accounting for 40-60% of the variance. Some of the variance could be additionally related to polymorphic sites either in the coding sequence or in transcription regulatory regions of LPA gene. We had scanned the LPA gene transcription regulatory regions (promoter, DHII, and DHIII enhancers) for variabilty. None of them was revealed to be extremely polymorphic. However significant linkage disequilibrium was detected even between polymorphic sites from far regulatory sequences. We have investigated if certain compound genotypes of apo(a) gene regulatory sequences could be associated with a narrow range of...
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Emerging cardiovascular risk markers in diagnostics and therapy
Tůmová, Eva ; Vrablík, Michal (advisor) ; Freiberger, Tomáš (referee) ; Polák, Jan (referee)
Cardiovascular diseases (CVD) have been one of the leading causes of morbidity and mortality in developed countries with an enormous influence on individual health and significant socioeconomic impact as well. The aim of most physicians in recent decades is to seek the best possible predicative risk factor (RF) (or combination of several RF) which could help to determine the individual risk of developing CVD. This risk stratification can be used to identify the high risk patients and treatment intensification or establishment of early preventive measures. Currently, several RF of atherosclerosis and CVD are commonly used to individualize health care. However, individuals with low levels of these RF suffer of CVD, therefore the effort to find as much as possible specific RF still persists. In recent years, the inflammatory markers, crucial in the atherosclerosis development, raise great expectation In our studies, we focused on investigating the levels of inflammatory parameters in specific groups of patients (obese children and patients with metabolic syndrome) and observed the effect of weight loss following lifestyle changes. Our main concern was lipoprotein-associated phospholipase A2 (Lp-PLA2), oxidized LDL particles (ox-LDL) and myeloperoxidase (MPO). The results demonstrated significantly...
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Dysregulation of immune system in the patients with Common Variable Immunodeficiency
Milota, Tomáš ; Horváth, Rudolf (advisor) ; Stříž, Ilja (referee) ; Freiberger, Tomáš (referee)
This thesis includes set of published experimental results, which were obtained at the Department of Immunology, Second Faculty of Medicine Charles University within the project focused on the basal and applied research of the Primary immunedeficiencies (PID), particularly Common variable immunodeficiency (CVID). The first, theoretical part, is divided into two sections. The first section is dedicated to the general aspects of Primary antibody deficiencies (PAD). The second section is focused on epidemiology, ethiopathogenesis, classification, clinical and therapeutical aspects of CVID. The main consideration is devoted particularly to non-infectious complications, which significantly contribute to morbidity and mortality of CVID patients. The second part consists of the set of publications describing specific mechanisms of immune system dysregulation and their clinical manifestation, which are briefly commented. The spectrum of issues resolved within the project covers following basic aspects: 1) characteristics of lung complications in CVID from the point of view of bronchial asthma, 2) characteristics of associated malignancies, 3) significance of genetic background for the specific treatment, 4) therapy of CVID focused on aspects of immunoglobulin substitution. The results of the other...
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Emerging cardiovascular risk markers in diagnostics and therapy
Tůmová, Eva ; Vrablík, Michal (advisor) ; Freiberger, Tomáš (referee) ; Polák, Jan (referee)
Cardiovascular diseases (CVD) have been one of the leading causes of morbidity and mortality in developed countries with an enormous influence on individual health and significant socioeconomic impact as well. The aim of most physicians in recent decades is to seek the best possible predicative risk factor (RF) (or combination of several RF) which could help to determine the individual risk of developing CVD. This risk stratification can be used to identify the high risk patients and treatment intensification or establishment of early preventive measures. Currently, several RF of atherosclerosis and CVD are commonly used to individualize health care. However, individuals with low levels of these RF suffer of CVD, therefore the effort to find as much as possible specific RF still persists. In recent years, the inflammatory markers, crucial in the atherosclerosis development, raise great expectation In our studies, we focused on investigating the levels of inflammatory parameters in specific groups of patients (obese children and patients with metabolic syndrome) and observed the effect of weight loss following lifestyle changes. Our main concern was lipoprotein-associated phospholipase A2 (Lp-PLA2), oxidized LDL particles (ox-LDL) and myeloperoxidase (MPO). The results demonstrated significantly...
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Variability in LPA gene transcription regulatory sequences
Zídková, Kateřina ; Češka, Richard (advisor) ; Hubáček, Jaroslav (referee) ; Freiberger, Tomáš (referee)
Charles University in Prague, The First Faculty of Medicine Thesis: Variability in LPA gene transcription regulatory sequences Name: Mgr. Kateřina Zídková Thesis Adviser: Prof. Richard Češka, M.D., Ph.D. Consulting Thesis Adviser: Assoc. Prof. Milada Kohoutová, M.D., Ph.D. Summury of Doctorate thesis Increased Lp(a) concentration is an independent risk factor for premature atherosclerosis. The Lp(a) concentration is almost entirely genetically determined with an exclusive linkage to a unique locus, the gene for apo(a), so called LPA locus. Nevertheless Lp(a) concentrations varies widely between individuals in all populations studied so far. There is a LPA gene size heterogeneity (KLPAIV type 2 repetition) accounting for 40-60% of the variance. Some of the variance could be additionally related to polymorphic sites either in the coding sequence or in transcription regulatory regions of LPA gene. We had scanned the LPA gene transcription regulatory regions (promoter, DHII, and DHIII enhancers) for variabilty. None of them was revealed to be extremely polymorphic. However significant linkage disequilibrium was detected even between polymorphic sites from far regulatory sequences. We have investigated if certain compound genotypes of apo(a) gene regulatory sequences could be associated with a narrow range of...
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