• MeSH
• dítě MeSH
• olovo toxicita   MeSH
• znečištění ovzduší MeSH
• Check Tag
• dítě MeSH

• MeSH
• cirkadiánní rytmus MeSH
• hormony štítné žlázy krev   moč   MeSH
• thyreotropin krev   moč   MeSH

• MeSH
• bilirubin krev   MeSH
• genotyp MeSH
• glukuronosyltransferasa genetika   MeSH
• lidé MeSH
• promotorové oblasti (genetika) genetika   MeSH
• schizofrenie krev   genetika   MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• dopisy MeSH
• Geografické názvy
• Česká republika MeSH

Total protein (TP), glucose (GL), esterified fatty acids (EFA) and total cholesterol (TC) were determined at 4-hour intervals during the 24-hour cycle in the serum of 270 female Wistar rats, in February, May and July. The results can be summed up under the following points: 1) The differences found between the levels of the given parameters in February, May and July were statistically highly significant. The greatest differences were observed in the TC level, which was lowest in July (0.82 mmol/l) and highest in February (1.87 mmol/l). The highest TP and GL values were found in May (62.5 g/l; 10.69 mmol/l) and the lowest in February (40.1 g/l; 7.8 mmol/l). The smallest differences were observed in the EFA level, which was highest in July (8.09 mEq/l) and lowest in February (6.39 mEq/l). The minimum 24-hour variations in the levels of most of the given parameters during the 24-hour cycle were observed in May (compared with February and July). 2) In a study of TP and GL concentration, the time of day was found to be a very important factor. The maximum TP level during the 24-hour cycle was found most often in the early morning or forenoon, while the blood glucose level was highest at about midday and in some cases in the early morning. The blood cholesterol level was relatively stable during the 24-hour cycle and it is impossible to draw definite conclusions from its fluctuations. Changes in the EFA level during the 24-hour cycle were likewise irregular. 3) Except for cholesterol, interindividual differences in the levels of the given parameters in the various months seem to be statistically non-significant.

• MeSH
• cholesterol krev   MeSH
• cirkadiánní rytmus * MeSH
• esenciální mastné kyseliny krev   MeSH
• krevní glukóza metabolismus   MeSH
• krevní proteiny metabolismus   MeSH
• krysa rodu rattus MeSH
• roční období * MeSH
• zvířata MeSH
• Check Tag
• krysa rodu rattus MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• dítě MeSH
• imunoglobuliny analýza   krev   MeSH
• krevní proteiny analýza   MeSH
• roční období MeSH
• vápník analýza   krev   metabolismus   MeSH
• Check Tag
• dítě MeSH

Background: Factor H-related protein 5 (FHR-5) is a member of the complement Factor H protein family. Due to the homology to Factor H, the main complement regulator of the alternative pathway, it may also be implicated in the pathomechanism of kidney diseases where Factor H and alternative pathway dysregulation play a role. Here, we report the first observational study on CFHR5 variations along with serum FHR-5 levels in immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) and C3 glomerulopathy (C3G) patients together with the clinical, genetic, complement, and follow-up data. Methods: A total of 120 patients with a histologically proven diagnosis of IC-MPGN/C3G were enrolled in the study. FHR-5 serum levels were measured in ELISA, the CFHR5 gene was analyzed by Sanger sequencing, and selected variants were studied as recombinant proteins in ELISA and surface plasmon resonance (SPR). Results: Eight exonic CFHR5 variations in 14 patients (12.6%) were observed. Serum FHR-5 levels were lower in patients compared to controls. Low serum FHR-5 concentration at presentation associated with better renal survival during the follow-up period; furthermore, it showed clear association with signs of complement overactivation and clinically meaningful clusters. Conclusions: Our observations raise the possibility that the FHR-5 protein plays a fine-tuning role in the pathogenesis of IC-MPGN/C3G.

• MeSH
• aktivace komplementu MeSH
• alely MeSH
• biologické markery * MeSH
• dospělí MeSH
• ELISA MeSH
• genetická predispozice k nemoci MeSH
• genetická variace * MeSH
• imunokomplex imunologie   MeSH
• jednonukleotidový polymorfismus MeSH
• komplement C3 imunologie   MeSH
• komplement genetika   metabolismus   MeSH
• lidé MeSH
• management nemoci MeSH
• membranoproliferativní glomerulonefritida krev   diagnóza   etiologie   mortalita   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• náchylnost k nemoci MeSH
• prognóza MeSH
• ROC křivka MeSH
• studie případů a kontrol MeSH
• určení symptomu MeSH
• vyšetření funkce ledvin MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Heme oxygenase-1 (HMOX1) and bilirubin UDP-glucuronosyltransferase (UGT1A1) enzymes, both involved in bilirubin homeostasis, play an important role in the oxidative stress defense. The objective of our study was to assess the effect of promoter variations of HMOX1 and UGT1A1 genes and of serum bilirubin on the risk of sporadic colorectal cancer (CRC). This exploratory case-control study was based on 777 CRC patients and 986 controls from the Czech Republic. The (GT)(n) and (TA)(n) dinucleotide variations in HMOX1 and UGT1A1 gene promoters, respectively, were determined by fragment analysis. In addition, the A(-413)T variant in HMOX1 promoter was also analyzed using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Serum bilirubin levels were compared in a subset of 174 cases and 247 controls, for whom biochemical data were available. After adjustment for age, a significant association between CRC risk and UGT1A1*28 allele carrier status was detected [odds ratio (95% confidence intervals) = 0.80 (0.60-0.97), p = 0.022]. No association between CRC risk and individual HMOX1 gene variants was observed, although a diplotype analysis revealed an increased risk for a specific HMOX1 genotype combination. These effects were more pronounced in males. Substantially lower serum bilirubin levels were detected in CRC patients compared to the controls (p < 0.001); each 1 μmol/L decrease in serum bilirubin was associated with a 7% increase of CRC risk (p < 0.001). In conclusion, UGT1A1*28 allele carrier status might be a protective factor against the development of CRC in the male population, whereas low serum bilirubin levels are associated with an increased risk of CRC in both genders.

• MeSH
• alely MeSH
• bilirubin krev   MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• glukuronosyltransferasa genetika   MeSH
• hemoxygenasa-1 genetika   MeSH
• kolorektální nádory krev   genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• promotorové oblasti (genetika) MeSH
• senioři MeSH
• sexuální faktory MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The data derived from rat models and the preliminary results of human studies provide strong indices of involvement of common ZBTB16 variants in a range of cardiovascular and metabolic traits. This cross-sectional study in the Caucasian cohort of 1517 Czech adults aimed to verify the hypothesis that ZBTB16 gene variation directly affects obesity and serum lipid levels. Genotyping of nine polymorphisms of the ZBTB16 gene (rs11214863, rs593731, rs763857, rs2846027, rs681200, rs686989, rs661223, rs675044, rs567057) was performed. A multivariate bidirectional regression with the reduction of dimensionality (O2PLS model) revealed relationships between basal lipid levels and anthropometric parameters and some minor ZBTB16 alleles. In men, the predictors - age and presence of minor ZBTB16 alleles of rs686989, rs661223, rs675044, rs567057 - were associated with significantly higher body mass index, waist to hip ratio, body adiposity index, waist and abdominal circumferences, higher total cholesterol and LDL cholesterol and explained 20 % of variability of these variables. In women, the predictors - age and presence of the rs686989 minor T allele - were also associated with increased anthropometric parameters and total cholesterol and LDL cholesterol but the obtained O2PLS model explained only 7.8 % of the variability of the explained variables. Our study confirmed that the selected gene variants of the transcription factor ZBTB16 influence the obesity-related parameters and lipid levels. This effect was more pronounced in men.

• MeSH
• cholesterol krev   MeSH
• dospělí MeSH
• genetická variace fyziologie   MeSH
• LDL-cholesterol krev   MeSH
• lidé MeSH
• metabolismus lipidů fyziologie   MeSH
• obezita krev   epidemiologie   genetika   MeSH
• protein promyelocytické leukemie s motivem zinkového prstu genetika   MeSH
• průřezové studie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

• MeSH
• adenektomie MeSH
• akromegalie metabolismus   patologie   terapie   MeSH
• dospělí MeSH
• estradiol analýza   krev   MeSH
• lidé MeSH
• menstruační poruchy MeSH
• periodicita MeSH
• pohlavní hormony analýza   krev   MeSH
• testosteron analýza   krev   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH

The aim of our study was to assess the possible relationships among heme oxygenase (HMOX), bilirubin UDP-glucuronosyl transferase (UGT1A1) promoter gene variations, serum bilirubin levels, and Fabry disease (FD). The study included 56 patients with FD (M : F ratio = 0.65) and 185 healthy individuals. Complete standard laboratory and clinical work-up was performed on all subjects, together with the determination of total peroxyl radical-scavenging capacity. The (GT)n and (TA)n dinucleotide variations in the HMOX1 and UGT1A1 gene promoters, respectively, were determined by DNA fragment analysis. Compared to controls, patients with FD had substantially lower serum bilirubin levels (12.0 versus 8.85 μmol/L, p = 0.003) and also total antioxidant capacity (p < 0.05), which showed a close positive relationship with serum bilirubin levels (p = 0.067) and the use of enzyme replacement therapy (p = 0.036). There was no association between HMOX1 gene promoter polymorphism and manifestation of FD. However, the presence of the TA7 allele UGT1A1 gene promoter, responsible for higher systemic bilirubin levels, was associated with a twofold lower risk of manifestation of FD (OR = 0.51, 95% CI = 0.27-0.97, p = 0.038). Markedly lower serum bilirubin levels in FD patients seem to be due to bilirubin consumption during increased oxidative stress, although UGT1A1 promoter gene polymorphism may modify the manifestation of FD as well.

• MeSH
• antioxidancia metabolismus   MeSH
• bilirubin krev   MeSH
• dospělí MeSH
• Fabryho nemoc krev   enzymologie   genetika   MeSH
• glukuronosyltransferasa genetika   MeSH
• hemoxygenasa-1 genetika   MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• promotorové oblasti (genetika) MeSH
• studie případů a kontrol MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH