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1.
Mol Biol Rep ; 51(1): 164, 2024 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-38252350

RESUMEN

BACKGROUND: Despite a general decline in mean levels across populations, LDL-cholesterol levels remain a major risk factor for acute coronary syndrome (ACS). The APOB, LDL-R, CILP, and SORT-1 genes have been shown to contain variants that have significant effects on plasma cholesterol levels. METHODS AND RESULTS: We examined polymorphisms within these genes in 1191 controls and 929 patients with ACS. Only rs646776 within SORT-1 was significantly associated with a risk of ACS (P < 0.05, AA vs. + G comparison; OR 1.21; 95% CI 1.01-1.45). With regard to genetic risk score (GRS), the presence of at least 7 alleles associated with elevated cholesterol levels was connected with increased risk (P < 0.01) of ACS (OR 1.26; 95% CI 1.06-1.52). Neither total mortality nor CVD mortality in ACS subjects (follow up-9.84 ± 3.82 years) was associated with the SNPs analysed or cholesterol-associated GRS. CONCLUSIONS: We conclude that, based on only a few potent SNPs known to affect plasma cholesterol, GRS has the potential to predict ACS risk, but not ACS associated mortality.


Asunto(s)
Síndrome Coronario Agudo , Puntuación de Riesgo Genético , Masculino , Humanos , Síndrome Coronario Agudo/genética , República Checa/epidemiología , Colesterol , Polimorfismo de Nucleótido Simple/genética
2.
Ann Hum Biol ; 51(1): 2341727, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38771659

RESUMEN

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and subsequent COVID-19 has spread world-wide and become pandemic with about 7 million deaths reported so far. Interethnic variability of the disease has been described, but a significant part of the differences remain unexplained and may be attributable to genetic factors. AIM: To analyse genetic factors potentially influencing COVID-19 susceptibility and severity in European Roma minority. SUBJECTS AND METHODS: Two genetic determinants, within OAS-1 (2-prime,5-prime-oligoadenylate synthetase 1, a key protein in the defence against viral infection; it activates RNases that degrade viral RNAs; rs4767027 has been analysed) and LZTFL1 (leucine zipper transcription factor-like 1, expressed in the lung respiratory epithelium; rs35044562 has been analysed) genes were screened in a population-sample of Czech Roma (N = 302) and majority population (N = 2,559). RESULTS: For both polymorphisms, Roma subjects were more likely carriers of at least one risky allele for both rs4767027-C (p < 0.001) and rs35044562-G (p < 0.00001) polymorphism. There were only 5.3% Roma subjects without at least one risky allele in comparison with 10.1% in the majority population (p < 0.01). CONCLUSIONS: It is possible that different genetic background plays an important role in increased prevalence of COVID-19 in the Roma minority.


Asunto(s)
COVID-19 , Hombre de Neandertal , Romaní , SARS-CoV-2 , Humanos , COVID-19/genética , COVID-19/epidemiología , Romaní/genética , Masculino , Femenino , Animales , Hombre de Neandertal/genética , Mutación , Persona de Mediana Edad , República Checa/epidemiología , Adulto , Prevalencia , 2',5'-Oligoadenilato Sintetasa/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Factores de Transcripción/genética , Anciano
3.
Folia Biol (Praha) ; 69(5-6): 181-185, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38583179

RESUMEN

A 2021 in silico study highlighted an association between the CD14 polymorphism rs2569190 and increased susceptibility to SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19). The aim of our study was to confirm this finding. We analysed the CD14 polymorphism (C→T; rs2569190) in 516 individuals who tested positive for SARS-CoV-2, with differing disease severity (164 asymptomatic, 245 symptomatic, and 107 hospitalized). We then compared these patients with a sample from the general population consisting of 3,037 individuals using a case-control study design. In comparison with carriers of the C allele, TT homozygotes accounted for 21.7 % of controls and 20.5 % in SARS-CoV-2-positive individuals (P = 0.48; OR; 95 % CI - 0.92; 0.73-1.16). No significant differences in the distribution of genotypes were found when considering co-dominant and recessive genetic models or various between-group comparisons. The CD14 polymorphism is unlikely to be an important predictor of COVID-19 in the Caucasian population in Central Europe.


Asunto(s)
COVID-19 , Polimorfismo de Nucleótido Simple , Humanos , Estudios de Casos y Controles , COVID-19/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , SARS-CoV-2/genética
4.
Cent Eur J Public Health ; 31(4): 235-239, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38309700

RESUMEN

OBJECTIVES: The acute respiratory syndrome, known as COVID-19, is characterised by high morbidity and increased mortality. Genetic factors may partially explain the differences in susceptibility to and severity of COVID-19. METHODS: We have analysed common functional polymorphisms within the OAS1 (rs4767027), TMPRSS6 (rs855791), DPP4 (rs3788979), and ZNF335 (rs3848719) genes in SARS-CoV-2 positive subjects (n = 521, different disease severity) and in population controls (n = 2,559 subjects, COVID-19 status unknown). RESULTS: Neither DPP4 nor ZNF335 were associated with disease susceptibility or severity in the Czech population in any of the models used for calculation. T allele carriers of the OAS1 polymorphism seem to be protective against symptomatic COVID-19 (p = 0.002 calculated for trend; asymptomatic, symptomatic, hospitalised). Similarly, within the TMPRSS6, minor TT homozygotes associated with lower plasma Fe concentrations were underrepresented in the overall patient group (p = 0.044; OR = 0.77, 95% CI: 0.59-0.99), and the difference was mainly driven by the severe COVID-19 subjects. In general, risky homozygotes of these two polymorphisms were less frequent than expected in the group of hospitalised COVID-19 survivors. CONCLUSIONS: Common variants within OAS1 (rs4767027) and TMPRSS6 (rs855791) play some role in COVID-19 pathology in the Czech Caucasian population. Whether the depletion of minor allele carriers of these two variants is associated with increased COVID-19 mortality, needs to be analysed in an external confirmatory study.


Asunto(s)
COVID-19 , Humanos , 2',5'-Oligoadenilato Sintetasa , COVID-19/genética , República Checa/epidemiología , Dipeptidil Peptidasa 4 , Proteínas de Unión al ADN , Proteínas de la Membrana , Polimorfismo de Nucleótido Simple , SARS-CoV-2 , Serina Endopeptidasas/genética , Factores de Transcripción
5.
Curr Atheroscler Rep ; 23(12): 80, 2021 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-34851454

RESUMEN

PURPOSE OF REVIEW: Chronic inflammation has been recognized as one of the most important pathophysiological mechanisms' initiation and progression of atherosclerosis. Statins belong to most successful therapeutic agents in the prevention and treatment of atherothrombotic vascular disease. Their non-lipid related effects including suppression of inflammation have been repeatedly proven in both experimental and clinical settings. RECENT FINDINGS: Recently, the importance of inflammation in the process of atherosclerosis has been confirmed by interventions targeting inflammation selectively. Clinical trial with selective inhibitor of a principal inflammatory mediator interleukin 1-beta - canakinumab - confirmed the notion of direct vasculoprotective effects of primarily targeting inflammation. This has increased interest in the non-lipid, pleiotropic and, particularly, anti-inflammatory effects of statins. Anti-inflammatory effects of statins have been proven both experimentally and in clinical settings beyond any doubt. They comprise a direct positive effect on not only many cell types and pathways that are lipid independent but, also, some that are mediated by lipid modification. Undoubtedly, suppression of inflammatory response by statins contributes to their generally positive action in atherosclerosis and represents an important part of the vasculo- and atheroprotective effect of this drug class.


Asunto(s)
Aterosclerosis , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Aterosclerosis/tratamiento farmacológico , Aterosclerosis/prevención & control , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Inflamación/tratamiento farmacológico
6.
Mol Biol Rep ; 48(8): 5873-5879, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34328600

RESUMEN

BACKGROUND: Common polymorphisms within the apolipoprotein E (APOE) gene are suggested to be associated with the development of type 2 diabetes mellitus (T2DM), but the potential association with T2DM complications (nephropathy, neuropathy and retinopathy) remains unclear. We perform the case-control study to analyse the association between the APOE polymorphism and risk of T2DM and to analysed the potential relationship between the APOE and T2DM complications. METHODS AND RESULTS: APOE variants (rs429358 and rs7412) were genotyped by TaqMan assay in T2DM patients (N = 1274; N = 829 with complications including retinopathy, neuropathy and nephropathy status) and with PCR-RFLP in healthy nondiabetic controls (N = 2055). The comparison of subjects with genotypes associated with low plasma cholesterol (APOE2/E2 and APOE2/E3 carriers vs. others) did not show an association with T2DM (OR [95% CI] = 0.88 [0.71-1.08). The differences remained insignificant after adjusting for diabetes duration, sex and BMI. Carriers of at least one APOE4 allele (rs429358) are protected against T2DM related retinopathy (OR [95% CI] = 0.65 [0.42-0.99]. Protection against retinopathy is driven mostly by females (OR [95% CI] = 0.50 [0.25-0.99]); and remains significant (P = 0.044) after adjustment for diabetes duration and BMI. CONCLUSION: Common APOE polymorphism was not associated with T2DM in the Czech population. Yet, APOE4 allele revealed an association with retinopathy. In particular, female T2DM patients with at least one APOE4 allele exhibit lower prevalence of retinopathy in our study subjects.


Asunto(s)
Apolipoproteínas E/genética , Retinopatía Diabética/genética , Adulto , Alelos , Apolipoproteína E4/genética , Apolipoproteína E4/metabolismo , Apolipoproteínas E/metabolismo , Estudios de Casos y Controles , República Checa , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Retinopatía Diabética/metabolismo , Femenino , Frecuencia de los Genes/genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Factores de Riesgo
7.
Int J Mol Sci ; 22(8)2021 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-33920733

RESUMEN

Despite the rapid progress in diagnosis and treatment of cardiovascular disease (CVD), this disease remains a major cause of mortality and morbidity. Recent progress over the last two decades in the field of molecular genetics, especially with new tools such as genome-wide association studies, has helped to identify new genes and their variants, which can be used for calculations of risk, prediction of treatment efficacy, or detection of subjects prone to drug side effects. Although the use of genetic risk scores further improves CVD prediction, the significance is not unambiguous, and some subjects at risk remain undetected. Further research directions should focus on the "second level" of genetic information, namely, regulatory molecules (miRNAs) and epigenetic changes, predominantly DNA methylation and gene-environment interactions.


Asunto(s)
Enfermedades Cardiovasculares/genética , Pruebas Genéticas/métodos , Nutrigenómica/métodos , Medicina de Precisión/métodos , Animales , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/terapia , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo/métodos , Humanos
8.
Int J Mol Sci ; 22(14)2021 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-34299034

RESUMEN

Studying the long-term impact of continuous-flow left ventricular assist device (CF-LVAD) offers an opportunity for a complex understanding of the pathophysiology of vascular changes in aortic tissue in response to a nonphysiological blood flow pattern. Our study aimed to analyze aortic mRNA/miRNA expression changes in response to long-term LVAD support. Paired aortic samples obtained at the time of LVAD implantation and at the time of heart transplantation were examined for mRNA/miRNA profiling. The number of differentially expressed genes (Pcorr < 0.05) shared between samples before and after LVAD support was 277. The whole miRNome profile revealed 69 differentially expressed miRNAs (Pcorr < 0.05). Gene ontology (GO) analysis identified that LVAD predominantly influenced genes involved in the extracellular matrix and collagen fibril organization. Integrated mRNA/miRNA analysis revealed that potential targets of miRNAs dysregulated in explanted samples are mainly involved in GO biological process terms related to dendritic spine organization, neuron projection organization, and cell junction assembly and organization. We found differentially expressed genes participating in vascular tissue engineering as a consequence of LVAD duration. Changes in aortic miRNA levels demonstrated an effect on molecular processes involved in angiogenesis.


Asunto(s)
Enfermedad de la Válvula Aórtica/patología , Regulación de la Expresión Génica , Insuficiencia Cardíaca/cirugía , Trasplante de Corazón/efectos adversos , Corazón Auxiliar/efectos adversos , MicroARNs/genética , ARN Mensajero/metabolismo , Adolescente , Adulto , Anciano , Enfermedad de la Válvula Aórtica/etiología , Enfermedad de la Válvula Aórtica/metabolismo , Femenino , Perfilación de la Expresión Génica , Insuficiencia Cardíaca/patología , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , ARN Mensajero/genética , Adulto Joven
9.
Int J Mol Sci ; 22(19)2021 Sep 29.
Artículo en Inglés | MEDLINE | ID: mdl-34638908

RESUMEN

Heterozygotes for Z or S alleles of alpha-1-antrypsin (AAT) have low serum AAT levels. Our aim was to compare the risk of hepatocellular carcinoma (HCC) in patients with liver cirrhosis carrying the SERPINA1 MM, MZ and MS genotypes. The study groups consisted of 1119 patients with liver cirrhosis of various aetiologies, and 3240 healthy individuals served as population controls. The MZ genotype was significantly more frequent in the study group (55/1119 vs. 87/3240, p < 0.0001). The MS genotype frequency was comparable in controls (32/119 vs. 101/3240, p = 0.84). MZ and MS heterozygotes had lower serum AAT level than MM homozygotes (medians: 0.90 g/L; 1.40 g/L and 1.67 g/L; p < 0.001 for both). There were significantly fewer patients with HCC in the cirrhosis group among MZ and MS heterozygotes than in MM homozygotes (5/55 and 1/32 respectively, vs. 243/1022, p < 0.01 for both). The risk of HCC was lower in MZ and MS heterozygotes than in MM homozygotes (OR 0.3202; 95% CI 0.1361-0.7719 and OR 0.1522; 95% CI 0.02941-0.7882, respectively). Multivariate analysis of HCC risk factors identified MZ or MS genotype carriage as a protective factor, whereas age, male sex, BMI and viral aetiology of cirrhosis increased HCC risk.


Asunto(s)
Carcinoma Hepatocelular/genética , Cirrosis Hepática/genética , Neoplasias Hepáticas/genética , alfa 1-Antitripsina/genética , Alelos , Índice de Masa Corporal , Carcinoma Hepatocelular/complicaciones , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Cirrosis Hepática/complicaciones , Neoplasias Hepáticas/complicaciones , Masculino , Persona de Mediana Edad , Análisis Multivariante , Factores de Riesgo , Factores Sexuales , alfa 1-Antitripsina/sangre
10.
Int J Mol Sci ; 22(15)2021 Jul 22.
Artículo en Inglés | MEDLINE | ID: mdl-34360600

RESUMEN

A DNA methylation pattern represents an original plan of the function settings of individual cells and tissues. The basic strategies of its development and changes during the human lifetime are known, but the details related to its modification over the years on an individual basis have not yet been studied. Moreover, current evidence shows that environmental exposure could generate changes in DNA methylation settings and, subsequently, the function of genes. In this study, we analyzed the effect of chronic exposure to nanoparticles (NP) in occupationally exposed workers repeatedly sampled in four consecutive years (2016-2019). A detailed methylation pattern analysis of 14 persons (10 exposed and 4 controls) was performed on an individual basis. A microarray-based approach using chips, allowing the assessment of more than 850 K CpG loci, was used. Individual DNA methylation patterns were compared by principal component analysis (PCA). The results show the shift in DNA methylation patterns in individual years in all the exposed and control subjects. The overall range of differences varied between the years in individual persons. The differences between the first and last year of examination (a three-year time period) seem to be consistently greater in the NP-exposed subjects in comparison with the controls. The selected 14 most differently methylated cg loci were relatively stable in the chronically exposed subjects. In summary, the specific type of long-term exposure can contribute to the fixing of relevant epigenetic changes related to a specific environment as, e.g., NP inhalation.


Asunto(s)
Metilación de ADN , Epigénesis Genética , Regulación de la Expresión Génica/efectos de los fármacos , Nanopartículas/efectos adversos , Enfermedades Profesionales/epidemiología , Exposición Profesional/efectos adversos , Adulto , Estudios de Casos y Controles , Islas de CpG , República Checa/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Profesionales/inducido químicamente , Enfermedades Profesionales/genética
11.
Genet Mol Biol ; 44(2): e20200405, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33949622

RESUMEN

Cardiovascular disease (CVD) is a major cause of death around the world, with highest prevalence reported in minority Roma/Gypsy populations living in developed countries. Whether these differences are caused by unhealthy lifestyles or genetic factors remain unknown. The aim of our study was to examine the genotype frequencies of the rs10757274 polymorphism in the 9p.21 locus within ANRIL (antisense non-coding RNA in the INK4 locus), a long non-coding RNA located in the vicinity of the CDKN2A/2B inhibitors loci. ANRIL is understood to be the strongest genetic determinant of CVD in Caucasians. Using PCR-RFLP, we analysed the ANRIL rs10757274 polymorphism in 298 non-Roma (50% male) and 302 Roma/Gypsy (50% male) adult (39.5 ± 15.1 years and 39.2 ± 12.8 years, respectively) subjects. We found that frequencies of the ANRIL GG, GA and AA genotypes were 20.1%, 52.4% and 27.5% in the majority population and 32.9%, 47.9% and 19.2% in Roma/Gypsy subjects, respectively. The distribution of genotypes was deemed significantly different at P < 0.001. Within the Roma/Gypsy population, we detected increased prevalence of the CVD-associated GG genotype. Increased prevalence of CVD among Roma/Gypsies subjects may be significantly linked to genetic background.

12.
Circ J ; 84(10): 1779-1785, 2020 09 25.
Artículo en Inglés | MEDLINE | ID: mdl-32848115

RESUMEN

BACKGROUND: The potential antiatherogenic role of bilirubin is generally acknowledged, so the aim of this study was to determine serum bilirubin concentrations and the prevalence of Gilbert syndrome (GS) in the Czech general population with particular reference to its relationship to the risk of myocardial infarction (MI).Methods and Results:Biochemical markers were analyzed in 2 independent Czech post-MONICA studies (in total, n=3,311), and in 741 male MI patients. TheUGT1A1promoter gene variant (rs81753472) was analyzed in these MI patients and in the first control population cohort (n=717). Medians of serum bilirubin concentrations in the 2 Czech general population cohorts were 9.6 and 9.8 µmol/L (10.7 and 11.3 µmol/L in males, and 8.3 and 8.8 µmol/L in females; P<0.01). The prevalence of GS was 8.9%, twice as high in males compared with females (11.6 vs. 6.1%; P<0.01). TheUGT1A1(TA)7/7promoter repeats significantly influenced serum bilirubin concentrations in the controls, but not in the MI patients. Serum bilirubin concentrations were significantly lower in MI patients (7.7 vs. 10.7 µmol/L; P<0.01), with almost 5-fold lower prevalence of GS. CONCLUSIONS: Serum bilirubin concentrations and the prevalence of GS were determined in the Czech general population. Significantly lower serum bilirubin concentrations were observed in male MI patients.


Asunto(s)
Bilirrubina/sangre , Enfermedad de Gilbert/sangre , Enfermedad de Gilbert/epidemiología , Infarto del Miocardio/sangre , Infarto del Miocardio/epidemiología , Adulto , Estudios Transversales , República Checa/epidemiología , Femenino , Genotipo , Enfermedad de Gilbert/genética , Glucuronosiltransferasa/genética , Humanos , Masculino , Persona de Mediana Edad , Infarto del Miocardio/genética , Polimorfismo Genético , Prevalencia , Regiones Promotoras Genéticas , Estudios Prospectivos , Estudios Retrospectivos , Factores de Riesgo , Factores Sexuales
13.
Int J Mol Sci ; 21(7)2020 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-32244494

RESUMEN

The risk of exposure to nanoparticles (NPs) has rapidly increased during the last decade due to the vast use of nanomaterials (NMs) in many areas of human life. Despite this fact, human biomonitoring studies focused on the effect of NP exposure on DNA alterations are still rare. Furthermore, there are virtually no epigenetic data available. In this study, we investigated global and gene-specific DNA methylation profiles in a group of 20 long-term (mean 14.5 years) exposed, nanocomposite, research workers and in 20 controls. Both groups were sampled twice/day (pre-shift and post-shift) in September 2018. We applied Infinium Methylation Assay, using the Infinium MethylationEPIC BeadChips with more than 850,000 CpG loci, for identification of the DNA methylation pattern in the studied groups. Aerosol exposure monitoring, including two nanosized fractions, was also performed as proof of acute NP exposure. The obtained array data showed significant differences in methylation between the exposed and control groups related to long-term exposure, specifically 341 CpG loci were hypomethylated and 364 hypermethylated. The most significant CpG differences were mainly detected in genes involved in lipid metabolism, the immune system, lung functions, signaling pathways, cancer development and xenobiotic detoxification. In contrast, short-term acute NP exposure was not accompanied by DNA methylation changes. In summary, long-term (years) exposure to NP is associated with DNA epigenetic alterations.


Asunto(s)
Metilación de ADN/efectos de los fármacos , Nanopartículas/efectos adversos , Exposición Profesional , Adulto , Anciano , Epigénesis Genética , Femenino , Genoma Humano , Humanos , Masculino , Persona de Mediana Edad , Nanocompuestos/efectos adversos , Adulto Joven
14.
Ann Hepatol ; 18(2): 379-385, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31054979

RESUMEN

INTRODUCTION AND AIM: It has been proposed that plasma concentration of bilirubin, an endogenous antioxidant, is protective against diseases mediated by increased oxidative stress, including cardiovascular diseases (CVD) and cancer. To examine this hypothesis, we investigated the relationship between plasma bilirubin concentrations and bilirubin UDP-glucuronosyl transferase (UGT1A1) promoter gene variations (associated with increased bilirubin concentrations) with total/CVD and cancer mortality. MATERIALS AND METHODS: A nested case-control study was conducted within the Polish arm of the HAPIEE cohort. At baseline in 2002-2005, participants were examined in detail. Mortality follow-up (median (IQR) between blood draw and death was 3.7 (2.1-5.1) years) was performed by linkage with regional and national death registers. Plasma biomarkers were analysed in all subjects who died from any cause (cases, n=447) and in a random subsample of survivors (controls, n=1423). RESULTS: There was a strong negative association between plasma bilirubin levels and total and cancer mortality, expressed more profoundly in men. The adjusted OR of deaths from all causes and cancer, comparing the highest vs. lowest plasma bilirubin categories were 0.61 (95% CI: 0.42-0.87) and 0.39 (0.24-0.65), respectively. There was no association of bilirubin with CVD mortality. The UGT1A1*28 allele, a genetic marker of raised bilirubin, was also negatively associated with total/cancer mortality, although the associations were not statistically significant. DISCUSSION: Both the observational and genetic associations support the negative relationship between bilirubin and total mortality; this association appears to be driven by cancer mortality, while that with CVD mortality is not evident.


Asunto(s)
Bilirrubina/sangre , Enfermedades Cardiovasculares/sangre , Enfermedades Cardiovasculares/mortalidad , Neoplasias/sangre , Neoplasias/mortalidad , Anciano , Biomarcadores/sangre , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/genética , Causas de Muerte , Femenino , Glucuronosiltransferasa/genética , Humanos , Masculino , Análisis de la Aleatorización Mendeliana , Persona de Mediana Edad , Neoplasias/diagnóstico , Neoplasias/genética , Polonia/epidemiología , Polimorfismo Genético , Valor Predictivo de las Pruebas , Pronóstico , Regiones Promotoras Genéticas , Medición de Riesgo , Factores de Riesgo , Factores Sexuales , Factores de Tiempo
15.
Vnitr Lek ; 64(12): 1148-1152, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30704249

RESUMEN

Bilirubin is the major catabolic product of heme degradation. It has long been regarded as an unimportant waste product. However, within the last twenty-five years, it has been demonstrated to play a very important role in maintaining the bodys redox equilibrium. Disturbances of this equilibrium - increased oxidative stress - are currently considered one of the major risk factors for the development of non-communicable diseases. Although the exact mechanism is not known, a number of human studies have proved a reduced incidence of a number of (especially cardiovascular but also cancer) diseases in individuals with mildly elevated bilirubin concentrations. Key words: bilirubin - cardiovascular disease - morbidity - mortality.


Asunto(s)
Bilirrubina , Infarto del Miocardio , Bilirrubina/fisiología , Humanos , Infarto del Miocardio/prevención & control , Estrés Oxidativo , Residuos
16.
Clin Transplant ; 32(12): e13443, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30408245

RESUMEN

Heart transplantation is a relatively common treatment for end-stage heart failure. The major complication of heart transplantation is organ rejection. Epigenetic could play a role in the pathogenesis of organ rejection, and the FTO gene is a mediator of DNA methylation. We analyzed a tagging FTO SNP rs17817449 in both donor and recipient DNA obtained through 370 heart transplantations. Recipient FTO genotypes were not associated with either type of rejection or with the general increase in the risk of rejection. When compared with patients without a history of rejection, carriers of transplanted hearts with the FTO TT genotype exhibited a significantly increased risk (P = 0.02) of suffering from both types of rejection in comparison to carriers of hearts with at least one G allele (OR; 95% CI = 2.56; 1.15-5.69). Our results suggest that the donor, but not the recipient, FTO genotype could be a significant predictor of acute rejection in heart transplant patients.


Asunto(s)
Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Rechazo de Injerto/diagnóstico , Trasplante de Corazón/efectos adversos , Polimorfismo de Nucleótido Simple , Complicaciones Posoperatorias/diagnóstico , Femenino , Estudios de Seguimiento , Genotipo , Rechazo de Injerto/etiología , Rechazo de Injerto/genética , Supervivencia de Injerto , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/genética , Pronóstico , Factores de Riesgo
17.
Med Sci Monit ; 24: 7493-7498, 2018 Oct 20.
Artículo en Inglés | MEDLINE | ID: mdl-30341978

RESUMEN

BACKGROUND This study was carried out to determine the relationship between the common TMEM-18 (rs4854344, G>T) and NYD-SP18 (rs6971091, G>A) gene variants and weight loss after lifestyle interventions (increased physical activity in conjunction with optimal dietary intake) in overweight/obese children/adolescents. MATERIAL AND METHODS We genotyped 684 unrelated, white, non-diabetic children (age 12.7±2.1 years, average BMI at baseline 30.66±4.80 kg/m²). Anthropometric and biochemical examinations were performed before and after 4 weeks of an intensive lifestyle intervention. RESULTS The mean weight loss achieved was 5.20±2.02 kg (P<0.001). NYDSP-18 AA homozygotes had significantly higher abdominal skinfold value before and after the intervention (both, P=0.001). No significant associations between BMI decrease and the NYD-SP18 and TMEM18 variants were found. Associations between all anthropometrical and biochemical changes and genes remained non-significant after data were adjusted for sex, age, and baseline values. CONCLUSIONS Decreased body weight in overweight/obese children is not significantly influenced by the NYD-SP18 rs6971091 or TMEM18 rs4854344 polymorphisms.


Asunto(s)
Adiposidad/genética , Proteínas de la Membrana/genética , Proteínas Nucleares/genética , Adolescente , Índice de Masa Corporal , Peso Corporal/genética , Niño , Ejercicio Físico , Femenino , Genotipo , Humanos , Estilo de Vida , Masculino , Proteínas de la Membrana/metabolismo , Proteínas Nucleares/metabolismo , Obesidad/genética , Sobrepeso/genética , Polimorfismo de Nucleótido Simple , Pérdida de Peso/genética
18.
Cent Eur J Public Health ; 26(4): 284-288, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30660139

RESUMEN

OBJECTIVE: The aim of the study was to analyse the frequencies of rs1229984 genotypes within the alcohol dehydrogenase (ADH1B) gene in a Gypsies/Roma population and compare them with other populations and with ethanol consumption. METHODS: We analysed the ADH1B (rs1229984; Arg47→His; c.143G>A) genotype using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in two ethnically different groups - Gypsies/Roma (N = 301) and Czechs (N = 300) where one day alcohol consumption was recorded. RESULTS: ADH1B genotype/allelic frequencies did not significantly differ between the populations (p = 0.32). The frequency of minor A allele carriers was slightly higher in Gypsies/Roma (14.7%) than in Czechs (11.9%). The prevalence of subjects reporting alcohol intake on the previous day was non-significantly lower in Gypsies/Roma (10.5% vs. 16.4%), as was the amount of alcohol consumed the day before the examination in ethanol consumers (36.1 ± 18.3 g vs. 43.0 ± 27.2 g). CONCLUSIONS: The frequency of rs1229984 genotypes in the ADH1B gene within the Gypsies/Roma population corresponds with frequencies obtained in North India/Central Asia, the putative country of this ethnic origin. Our results suggest that the minority Gypsies/Roma population consume slightly less alcohol than the Czech majority population.


Asunto(s)
Alcohol Deshidrogenasa/genética , Consumo de Bebidas Alcohólicas/etnología , Consumo de Bebidas Alcohólicas/genética , Predisposición Genética a la Enfermedad/etnología , Romaní/genética , República Checa/epidemiología , Genotipo , Humanos
19.
BMC Public Health ; 17(1): 651, 2017 08 11.
Artículo en Inglés | MEDLINE | ID: mdl-28800751

RESUMEN

BACKGROUND: Despite high cardiovascular mortality in Central Asian republics of the former Soviet Union, there is limited information about major risk factors, including blood lipids. We investigated the prevalence of impaired concentrations of blood lipids, the awareness, treatment and control of hypercholesterolemia, and factors associated with these indicators in urban and rural populations in Kazakhstan. METHODS: We conducted a cross-sectional study of random urban and rural population samples (the state capital Astana and Akmol village). Men and women aged 50-74 years were examined; a total of 954 adults participated (response rate 59%). Serum concentrations of total, LDL and HDL cholesterol and triglycerides and a range of other cardiovascular risk factors were measured. RESULTS: The overall prevalence of hypercholesterolemia (total cholesterol ≥6.2 mmol/l) was 37%; among subjects with hypercholesterolemia, 57% were aware of their condition, 41% took medication and 23% had total cholesterol <6.2 mmol/l (4.5% <5 mmol/l). The prevalence, awareness, treatment, and control of hypercholesterolemia were all higher in the urban than the rural area. Similarly, the proportions of subjects with impaired concentrations of specific lipids fractions were also considerably higher in the urban population. Most associations with other covariates were in the expected direction. CONCLUSIONS: This study found relatively high prevalence of dyslipidemia in the Kazakh population, and the blood lipid profile was less favourable in the urban area. These pronounced urban-rural differences may be related to urbanization, the associated nutrition transition and to access to health care.


Asunto(s)
Enfermedades Cardiovasculares/epidemiología , Dislipidemias/diagnóstico , Dislipidemias/terapia , Población Rural/estadística & datos numéricos , Población Urbana/estadística & datos numéricos , Anciano , Estudios Transversales , Dislipidemias/epidemiología , Femenino , Humanos , Kazajstán/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , U.R.S.S.
20.
Genet Mol Biol ; 40(2): 450-452, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28497837

RESUMEN

Lactase non-persistence (leading to primary lactose intolerance) is a genetically dependent inability to digest lactose in adulthood. As part of the human adaptation to dairying, the human lactase LCT-13910C/T mutation (which propagates adult expression of lactase) developed, spread and participated in the adaptation to dairying. This variant is associated with lactase activity persistence, and its carriers are able to digest lactose. We compared the frequencies of lactase 13910C/T (rs4988235) genotypes in Czechs/Slavs (N = 288) and Czech Gypsies/Roma (N = 300), two ethnically different groups where this polymorphism has not yet been analysed. Allelic frequencies significantly differed between the populations (p < 0.0001). In Czechs/Slavs, the lactase persistence T allele was present in 76% of the individuals, which is in agreement with frequencies among geographically neighbouring populations. In the Czech Gypsy/Roma population, only 27% of the adults were carriers of at least one lactase persistence allele, similar to the Indian population. In agreement with this result, dairy product consumption was reported by 70.5% of Czechs/Slavs and 39.0% of the Czech Gypsy/Roma population. Both in the Czech Gypsy/Roma and in the Czech/Slavs populations, the presence of carriers of the lactase persistence allele was similar in subjects self-reporting the consumption of unfermented/fresh milk, in comparison to the others.

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