- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
The endothelin system may play a role in the pathogenesis of vasovagal syncope (VVS) because it is implicated in blood pressure regulation. We hypothesized that endothelin-related genetic polymorphisms might modulate susceptibility to VVS. This study aimed to evaluate the possible influence of endothelin-1 (EDN1) and endothelin receptor A (EDNRA) gene variants on the occurrence of tilt-induced VVS and autonomic nervous system activity during the head-up tilt test (HUT). Results were expressed as mean +/- SEM. In 254 patients with recurrent syncope (age 45.33+/-1.22 years, 94 males, 160 females), heart rate variability (HRV) was measured during HUT. EDN1 rs5370 G>T and EDNRA rs5333 T>C gene polymorphisms were assessed using high-resolution melting analysis. There was no statistically significant association between polymorphisms EDN1 rs5370 and EDNRA rs5333 and positivity of HUT or hemodynamic types of VVS. Patients with GT or TT genotypes at the rs5370 locus of the EDN1 had significantly higher values of high-frequency (HF) and the standard deviation of the average NN intervals at the time of the syncope, and they tended to have lower low-frequency (LF) and LF/HF ratio when compared to homozygotes (GG). No statistically significant differences were found in HRV parameters concerning the EDNRA rs5333 genotypes. Our findings suggest the potential role of EDN1 rs5370 variants in regulating autonomic nervous activity and pathogenesis of VVS.
- MeSH
- dospělí MeSH
- endotelin-1 * genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- polymorfismus genetický genetika MeSH
- receptor endotelinu A genetika MeSH
- srdeční frekvence genetika MeSH
- test na nakloněné rovině MeSH
- vazovagální synkopa * diagnóza genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
The association between gene variant rs7635818 located on chromosome 3p12.3 and abdominal aortic aneurysm (AAA) was not unambiguously determined by the results of genome-wide association studies. The aim of our study was to examine this possible association in the Slovak population, with respect to the presence and severity of AAA.A cross-sectional study was conducted between August 2016 and March 2020. The study included 329 participans, 166 AAA patients and a control group of 163 subjects without confirmed AAA with comparable distribution of genders. The anteroposterior diameter of the abdominal aorta was determined by duplex ultrasonography. AAA was defined as subrenal aortic diameter ≥ 30 mm. DNA samples were genotyped using real-time polymerase chain reaction and subsequent high-resolution melting analysis in presence of unlabelled probe. Genetic models studying the possible association were adjusted to age, sex, smoking, arterial hypertension, diabetes mellitus, creatinine and body mass index (BMI) in multivariate analysis. In the additive model, presence of each C-allele of rs7635818 polymorphism was associated with an almost 50 % increase in probability of developing AAA (OR 1.49; 95 % CI 1.06-2.08; p=0.020). Compared to GG homozygotes, CC homozygotes had more than two times higher risk of developing AAA (OR 2.23; 95 % CI 1.14-4.39; p=0.020). The risk of AAA was also in the recessive model higher for CC homozygotes compared to G-allele carriers (GC/GG) (OR 1.79; 95 % CI 1.01-3.19; p=0.047).The abdominal aortic diameter in CC homozygotes of the rs7635818 polymorphism was 7.66 mm greater compared to GG homozygotes (42.5±22.0 mm vs 34.8±21.3 mm; p=0.022) and 5.88 mm greater compared to G-allele carriers (GC/GG) (42.5±22.0 mm vs 36.6±21.0 mm; p=0.04) in univariate analysis. C-allele variant in rs7635818 G>C polymorphism is associated with a higher probability of developing AAA in the Slovak population.
- MeSH
- aneurysma břišní aorty diagnostické zobrazování etnologie genetika MeSH
- běloši genetika MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- genetické asociační studie MeSH
- hodnocení rizik MeSH
- jednonukleotidový polymorfismus * MeSH
- lidé středního věku MeSH
- lidé MeSH
- lidské chromozomy, pár 3 * MeSH
- průřezové studie MeSH
- rizikové faktory MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- stupeň závažnosti nemoci MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
Na základe výsledkov nedávnych štúdií sa predpokladá, že za časť interindividuálnych rozdielov v liečebnej odpovedi môžu byť zodpovedné jednonukleotidové polymorfi - zmy v génoch niektorých membránových transportérov. Cieľom predkladanej práce bolo hodnotenie polymorfi - zmu 3435T > C (rs1045642) v géne pre mnohopočetnú liekovú rezistenciu 1 (MDR1, ABCB1), kódujúceho efl uxnú pumpu P-glykoproteín, vo vzťahu k liečebnej odpovedi u pacientok s karcinómom prsníka užívajúcich tamoxifén v adjuvantných režimoch. Efektivita antineoplastickej liečby vo vzťahu k jednotlivým genotypom polymorfi zmu sa posudzovala porovnaním času do progresie (TTP; n = 89). V našej štúdii sme u pacientok s genotypom TC polymorfi zmu MDR1 (3435T > C) zaznamenali signifi kantne najkratší TTP (TC vs. TT + CC: log-rank: 0,017, Breslow: 0,028, Tarone-Ware: 0,022; HR = 3,2, 95% CI: 1,23–8,33). Podobný trend bol zachovaný aj pri osobitnom hodnotení pacientok, u ktorých bol v čase diagnózy diagnostikovaný duktálny invazívny karcinóm (HR = 3,4; 95% CI: 0,94–12,10). Výsledky poukazujú na možný vplyv polymorfi zmu MDR1 (3435T > C) na vznik interindividuálnych rozdielov v liečebnej odpovedi na hormonálnu liečbu karcinómu prsníka.
Recent studies have demonstrated that single nucleotide polymorphisms (SNP) in genes of some membrane transporters can contribute to inter-individual differences in chemotherapy response. Our study was aimed to evaluate the relationship of 3435T > C (rs1045642) polymorphism in multidrug resistance-1 gene (MDR1, ABCB1), encoding an effl ux pump P-glycoprotein, to therapeutic outcome in breast cancer patients treated with tamoxifen received as an adjuvant treatment. Time to progression (TTP; n = 89) between genotypes of the tested SNP was investigated. Patients carrying TC genotype of MDR1 (3435T > C) were found to have signifi cantly the shortest TTP (TC vs. TT + CC: log-rank: 0,017, Breslow: 0,028, Tarone-Ware: 0,022; HR = 3,2, 95% CI: 1,23–8,33) in our study. A similar trend was also maintained for patients who were assessed at the time of diagnosis as ductal invasive carcinoma (HR = 3,4; 95% CI: 0,94–12,10). In conclusion, the results demonstrate that MDR1 (3435T > C) polymorphism could play the role in breast cancer inter-individual variability in therapeutic outcome to hormone therapy.
- MeSH
- časové faktory MeSH
- genotypizační techniky metody přístrojové vybavení MeSH
- geny MDR genetika účinky léků MeSH
- jednonukleotidový polymorfismus genetika MeSH
- lidé MeSH
- mnohočetná léková rezistence MeSH
- mutace MeSH
- nádory prsu * farmakoterapie genetika patologie MeSH
- progrese nemoci MeSH
- tamoxifen terapeutické užití MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
Metabolic complications are frequent in primary aldosteronism (PA) and adiponectin gene polymorphisms seem to confer a genetic risk for metabolic alterations. Aim of the study was to evaluate the prevalence of metabolic symptoms in patients with PA compared to controls and the prevalence of two single nucleotide polymorphisms (SNPs), T45G and G276T, in the adiponectin gene and their relationship to metabolic syndrome (MS). The study involved 47 patients with PA and 90 controls selected from general population. Body mass index (BMI), and selected biochemical parametres were examined, and the mentioned SNPs were genotyped in all subjects. PA patients had a significantly higher BMI (p<0.0001), blood glucose level (p<0.01), and triglycerides (p<0.0005) compared to controls. There were no significant differences in the prevalence of the studied genotypes of adiponectin gene polymorphisms. The 276GT genotype was linked with lower levels of triglycerides (p
- MeSH
- adiponektin krev genetika MeSH
- analýza rozptylu MeSH
- biologické markery krev MeSH
- cholesterol krev MeSH
- dospělí MeSH
- fenotyp MeSH
- frekvence genu MeSH
- genetická predispozice k nemoci MeSH
- hyperaldosteronismus krev epidemiologie genetika MeSH
- jednonukleotidový polymorfismus * MeSH
- krevní glukóza analýza MeSH
- lidé středního věku MeSH
- lidé MeSH
- prevalence MeSH
- rizikové faktory MeSH
- rozdělení chí kvadrát MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- triglyceridy krev MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Slovenská republika MeSH
