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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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Relevance of nutritional recommendations obtained electronically from different sources
Neprašová, Marie ; Hubáček, Jaroslav (advisor) ; Chrpová, Diana (referee)
This thesis focuses on nutritional recommendations as information provided by national and international institutions that they receive to individuals. It can be their activity in society and the creation of educational materials or the opportunity to address them directly about a specific problem. The theoretical part introduces the topic of general nutritional recommendations, which are designed primarily for the whole society or for a certain group of people (like children, seniors etc.). Finally, the exact topics that are not usually included in the general nutritional recommendations for the population are discussed. These are mainly health conditions where a specific direction of diet is necessary, and the diet has its given restrictions. The topics were selected based on their popularity and topicality in the population. The work analyzes topics such as salt intake in food, iron deficiency, eating disorders, possible nutrient deficiencies in the vegetarian diet, but also metabolic disorders such as phenylketonuria, milk protein allergy or lactose intolerance. Due to the focus on Czech nutritional recommendations, it was drawn mainly from Czech publications of renowned personalities in the field of nutrition, medicine and food, they were supplemented by current scientific studies, which were...
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Diabetes mellitus and related conditions
Kurková, Simone ; Kara, Tomáš (advisor) ; Hubáček, Jaroslav (referee)
Diabetes mellitus is one of the non-communicable diseases of mass occurrence. Other diseases, such as diseases of the nervous or vascular system, are often associated with diabetes itself. This thesis discusses diabetes and these associated diseases, which occur most often together with diabetes. The aim of the thesis was to describe the development and therapy of diabetes itself and the resulting oncological disease of the pancreas. Another goal was to capture the dietary habits of interviewed persons with a newly diagnosed pancreatic tumor and determine nutritional interventions depending on the diet record. As these cases were very specific, the practical part was processed in the form of a case study. The work includes 4 case studies of patients with diabetes mellitus together with oncological disease of the pancreas. Each case study also includes nutritional recommendations for improving or maintaining the quality of life and compensating for the disease. The topic of diabetes and oncological disease of the pancreas is not sufficiently explored and therefore there is a need for further research that would deal with these topics. keywords: diabetes mellitus, diabetes mellitus and related conditions, complications of diabetes, diabetes mellitus and pancreatic cancer
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Diabetes mellitus and related conditions
Kurková, Simone ; Kara, Tomáš (advisor) ; Hubáček, Jaroslav (referee)
Diabetes mellitus is a non-communicable disease of mass occurrence. Diabetes itself is often associated with other diseases, such as diseases of the nervous or vascular system. This thesis deals with diabetes and these associated diseases, which occur most often with diabetes. The main goal of the thesis was to describe the development of diseases associated with diabetes and also to map the dietary habits of respondents. As these are cases that are very specific, the practical part was processed in the form of case studies. The study includes 4 cases of patients with diabetes mellitus together with an associated disease, such as diabetic nephropathy. Each case report also includes nutritional recommendations for improving or maintaining the quality of life and compensating for the disease. However, the issue of diabetes and related diseases has not yet been fully explored, and further research is needed to examine this issue in more depth. keywords: diabetes mellitus, diabetes mellitus and related conditions, complications of diabetes
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Milk and its alternatives
Pastorková, Eva ; Hubáček, Jaroslav (advisor) ; Suchánek, Pavel (referee)
The thesis focused on milk and its alternatives, i.e. plant-based drinks. The theoretical part summarized the nutritional value of milk and its consumption in the world and the Czech Republic. As a source of fats, proteins, minerals, and vitamins, milk is of nutritional value. Furthermore, the importance of milk in human nutrition for different age groups was discussed. Related dietary recommendations and reasons limiting milk consumption were introduced. This included health reasons such as lactose intolerance, cow milk protein allergy or the rarely occurring galactosemia, as well as ethical or environmental reasons. Last but not least, alternatives to milk, i.e. plant-based drinks, were presented. These drinks are based on extracts of legumes, cereals, nuts and/or seeds diluted with water and often supplemented with other additives. The practical part aimed to assess the dietary habits of the general public and nutritionally educated people regarding the consumption of milk and plant-based drinks, including their awareness of the importance of this food in human nutrition. Data were collected using a questionnaire survey. In addition, the nutritional values of selected plant-based drinks were also compared with cow's milk. Within the sample studied, milk was observed to be a frequent part of the...
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Genetic aspects of Crohn's disease
Hradský, Ondřej ; Cinek, Ondřej (advisor) ; Petřek, Martin (referee) ; Hubáček, Jaroslav (referee)
JednosmmJw.ý SOWlrn vanglitrlné Crohn'. _ oe (COl h.. been ohown ..._Ied YIiIh Ihe variant. o, NOD2, ATGI51.! ond IL23R gene. , o, Ihe IB051<>1:...... _ .. o, oIher gene> 0,_ in the irnm..... respoooe_ T"" ~cies <>f Ihe von..l> pro!oundIy <line< _ popuIoIiooo """ 10 doeo the .osoe..ted IN_ Moreo_, II!e """ <>f the IB05 Iocu. _ ClU_ gene .. de",Iopm",,' ol Crohn'. <lise.... h...... .,.,.., c_We e. omined Ihe ~. ol ,onanl> .. the N002, ATGI51.! , 1L2JR, TIIFA _ PTPl/22 gene roI V3t\aI1" in IBOS _ CTLH d"romooomol fegions wiIh ped;atric-on...' and odul-onoet co .. ..., C,ecl> """"",boo. The ge_, phenoly;>o, _ . _ Irequencies '01<= compe<ed between .59 unrelo1ed P'_ wiIh CO 000 HO on<eI3led _ y cootrols_ The strongest oooo<..tion wiIh CD >on found .. NOD2 gene (1fIret> V_I, loIowed by "'" v_nto o, 1B05 1<>1:.... (IGR206Jb_ ' , ,.65960151, _.~'" asoociotion YIiIh vorian1 .. 1L23R ond ATGlfiLl _ , _ "" ~ .osoc:i3tion,.,.. _for the p.R62OW vofi.ant .. the PTPN22 ge"" or forthe 9_2306G>A variant .. the TIIFA gene. We hove rep<lfled . ~h ~t"j ol the minor'" ol trie NODll007fs poIymorpIlism o, "e Czecl> popuIrioo _ . otrong e!leC1 ol """ alele on " e _ .1 diagnoo.ia ond .,.. Iofm ol <Iise,...,_ o..,. OILl<Iy confi'm. the mpoflonce ol IB05 in det""" .....g CO . UK<'ptibMy, ond _"'Ol,," lhal IWO indepe_'"...
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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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Role of the FTO gene in the genetic determination of common multifactorial diseases
Dlouhá, Dana ; Hubáček, Jaroslav (advisor) ; Černá, Marie (referee) ; Rossmeislová, Lenka (referee)
Obesity is a risk factor for development of cardiovascular disease, diabetes type 2 and some cancers. Newly detected genetic risk factor for body weight is the FTO gene ("fat mass and obesity associated"). The aim of this thesis was determine 1) whether the presence of risk alleles correlate with BMI in Czech population and to determine 2) whether there is an association between variants in the FTO gene and risk of myocardial infarction/ acute coronary syndrome (MI/ ACS), 3) renal failure (ESRD), or 4) incidence of colorectal cancer (CRC). We analyzed polymorphisms rs17817449 (first intron) and rs17818902 (3rd intron) using by PCR-RFLP and then also RT PCR. We found an association of the first intron variant (but not the 3rd one) and BMI in Czech control population. We have detected an association of 1st intron SNP and BMI changes during the intervention study in obese children, but not in obese females. We found a correlation between the risk allele and increased risk of ACS (OR 1.49) in patients with MI. In patients with ESRD was detected association between the risk allele and the risk of disease (OR 1.37). We didn't confirmed the association between rs17817449 and the development of CRC. Representative selected groups of the Czech populations "MONICA" and "HAPPIE" were used as controls. One...
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Molecular aspects of genetic predisposition to type 2 diabetes mellitus and its monogenic forms
Pintérová, Daniela ; Černá, Marie (advisor) ; Bendlová, Běla (referee) ; Hubáček, Jaroslav (referee)
The aim of this work was to study some molecular aspects of genetic predisposition to T2DM and its monogenic forms. We searched for correlations of genotypes with many clinical and laboratory markers and tried to evaluate their significance. The consequences for possible changes in the treatment some particular patients were under discussion. Especially for those suffering from monogenic forms we were able to reach better compensation of DM, or at latest the same compensation for more acceptable therapy. We studied the associations of chosen candidate genes, PPAR, NF-B, its inhibitor IB, known polymorphisms and T2DM including diabetic complications. We used the association study approach to find out if there is any association between available genetic variants among our patients and T2DM with its phenotypic abnormalities (changed levels of total cholesterol, HDL-cholesterol, LDL-cholesterol and triglycerides, further the presence of diabetic complications).
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