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Determination of genetic markers for kidney complications of diabetes mellitus.
Vedralová, Marcela
In this work we chose to study genes whose protein products significantly affect calcium- phosphate metabolism in kidneys and are hypothesized to be involved in the pathogenesis of diabetes as well as kidney damage. Vitamin D receptor (VDR) belongs to a large family of nuclear receptors and transcription factors. VDR is expressed in many cells in different tissues and activation of this receptor by its ligand 1,25 - dihydroxyvitamin D3 affects expression of many genes. Using restriction endonucleases Bsm I, Fok I, Taq I and Apa I, there were identified polymorphic sites in VDR gene that were found to be associated with certain chronic diseases, like type 1 and type 2 diabetes and lung carcinoma. Parathyreoid hormone is one of the most important regulators of calcium and phosphate metabolism. Allelic polymorphism of PTH gene involves B/b and D/d alleles that can participate in pathogenesis of kidney complications as well. Aims: We aimed to determine whether there is a difference in frequency of certain combinations of VDR and PTH genotypes between group of diabetic patients with kidney complications and diabetic patients without kidney complications. We also assessed influence of single-nucleotide polymorphisms at VDR gene mRNA expression. Methods: DNA was isolated by salt-extraction method and...
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Some molecular mechanisms of calcium phosphate metabolism in diabetes mellitus
Vedralová, Marcela ; Černá, Marie (advisor) ; Kalvodová, Bohdana (referee) ; Brunerová, Ludmila (referee)
We chose to study polymorphisms of vitamin D receptor gene (VDR), parathyroid hormone gene (PTH) and CASR gene whose protein products significantly affect calcium phosphate metabolism and are implicated in the pathogenesis of diabetes, which may also involve kidney damage. The aim of this study was to find out whether the VDR, PTH and CASR polymorphisms are associated with the risk of developing diabetes mellitus and its renal complications. The frequencies of alleles and genotypes were studied in the groups of diabetic patients a with and without kidney complications using either TaqMan probes or PCR-RFLP. Comparison of patients with diabetic nephropathy (DN) and healthy subjects identified statistically significant difference for the FokI polymorphism in VDR gene (P<10-4) and also for the BstBI polymorphism in PTH gene (P=0,023). DraII polymorphism in PTH gene is associated with the risk of developing diabetes and its renal complications. In DN patients, the BBFFAATt haplotype of VDR gene was more frequent than in healthy subjects (P=0,046), and the BbFFAaTt variant was more frequent than in DM2 patients (P=0,018). The BBDD haplotype of PTH gene seems to be a predisposing factor for diabetes itself (P=0,019). The allele frequencies and genotype distribution for rs3804594 and rs1042636...
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Determination of genetic markers for kidney complications of diabetes mellitus.
Vedralová, Marcela
In this work we chose to study genes whose protein products significantly affect calcium- phosphate metabolism in kidneys and are hypothesized to be involved in the pathogenesis of diabetes as well as kidney damage. Vitamin D receptor (VDR) belongs to a large family of nuclear receptors and transcription factors. VDR is expressed in many cells in different tissues and activation of this receptor by its ligand 1,25 - dihydroxyvitamin D3 affects expression of many genes. Using restriction endonucleases Bsm I, Fok I, Taq I and Apa I, there were identified polymorphic sites in VDR gene that were found to be associated with certain chronic diseases, like type 1 and type 2 diabetes and lung carcinoma. Parathyreoid hormone is one of the most important regulators of calcium and phosphate metabolism. Allelic polymorphism of PTH gene involves B/b and D/d alleles that can participate in pathogenesis of kidney complications as well. Aims: We aimed to determine whether there is a difference in frequency of certain combinations of VDR and PTH genotypes between group of diabetic patients with kidney complications and diabetic patients without kidney complications. We also assessed influence of single-nucleotide polymorphisms at VDR gene mRNA expression. Methods: DNA was isolated by salt-extraction method and...
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Determination of genetic markers for kidney complications of diabetes mellitus.
Vedralová, Marcela ; Kotrbová - Kozak, Anna Katarzyna (advisor) ; Kalousová, Marta (referee)
In this work we chose to study genes whose protein products significantly affect calcium- phosphate metabolism in kidneys and are hypothesized to be involved in the pathogenesis of diabetes as well as kidney damage. Vitamin D receptor (VDR) belongs to a large family of nuclear receptors and transcription factors. VDR is expressed in many cells in different tissues and activation of this receptor by its ligand 1,25 - dihydroxyvitamin D3 affects expression of many genes. Using restriction endonucleases Bsm I, Fok I, Taq I and Apa I, there were identified polymorphic sites in VDR gene that were found to be associated with certain chronic diseases, like type 1 and type 2 diabetes and lung carcinoma. Parathyreoid hormone is one of the most important regulators of calcium and phosphate metabolism. Allelic polymorphism of PTH gene involves B/b and D/d alleles that can participate in pathogenesis of kidney complications as well. Aims: We aimed to determine whether there is a difference in frequency of certain combinations of VDR and PTH genotypes between group of diabetic patients with kidney complications and diabetic patients without kidney complications. We also assessed influence of single-nucleotide polymorphisms at VDR gene mRNA expression. Methods: DNA was isolated by salt-extraction method and...
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