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001-es BibID:BIBFORM091401
035-os BibID:(cikkazonosító)617711
Első szerző:Bereczky Zsuzsanna (orvosi laboratóriumi diagnosztika szakorvos)
Cím:Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases / Bereczky Zsuzsanna, Gindele Réka, Fiatal Szilvia, Speker Marianna, Miklós Tünde, Balogh László, Mezei Zoltán, Szabó Zsuzsanna, Ádány Róza
Dátum:2021
ISSN:2297-055X
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
thrombosis
cardiovascular disease
Roma population
founder effect
antithrombin Budapest 3
antithrombin deficiency
Megjelenés:Frontiers in Cardiovascular Medicine. - 7 (2021), p. 1-15. -
További szerzők:Gindele Réka (1987-) (molekuláris biológus) Fiatal Szilvia (1978-) (epidemiológus, népegészségügyi szakember) Speker Marianna Miklós Tünde Balogh László (1976-) (kardiológus) Mezei Zoltán András (1980-) (orvos) Szabó Zsuzsa (1990-) (kémikus) Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos)
Pályázati támogatás:K116228
OTKA
K135784
OTKA
GINOP-2.3.2-15-2016- 00005
GINOP
GINOP-2.3.2-15-2016-00039
GINOP
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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2.

001-es BibID:BIBFORM114684
035-os BibID:(cikkazonosító)1224462 (WoS)001072971800001 (Scopus)85171870373
Első szerző:Natae, Shewaye (PhD hallgató)
Cím:A combination of strongly associated prothrombotic single nucleotide polymorphisms could efficiently predict venous thrombosis risk / Shewaye Fituma Natae, Mohammed Abdulridha Merzah, János Sándor, Róza Ádány, Zsuzsanna Bereczky, Szilvia Fiatal
Dátum:2023
ISSN:2297-055X
Megjegyzések:Background: Venous thrombosis (VT) is multifactorial trait that contributes to the global burden of cardiovascular diseases. Although abundant single nucleotide polymorphisms (SNPs) provoke the susceptibility of an individual to VT, research has found that the five most strongly associated SNPs, namely, rs6025 (F5 Leiden), rs2066865 (FGG), rs2036914 (F11), rs8176719 (ABO), and rs1799963 (F2), play the greatest role. Association and risk prediction models are rarely established by using merely the five strongly associated SNPs. This study aims to explore the combined VT risk predictability of the five SNPs and well-known non-genetic VT risk factors such as aging and obesity in the Hungarian population. Methods: SNPs were genotyped in the VT group (n = 298) and control group (n = 400). Associations were established using standard genetic models. Genetic risk scores (GRS) [unweighted GRS (unGRS), weighted GRS (wGRS)] were also computed. Correspondingly, the areas under the receiver operating characteristic curves (AUCs) for genetic and non-genetic risk factors were estimated to explore their VT risk predictability in the study population. Results: rs6025 was the most prevalent VT risk allele in the Hungarian population. Its risk allele frequency was 3.52-fold higher in the VT group than that in the control group [adjusted odds ratio (AOR) = 3.52, 95% CI: 2.50-4.95]. Using all genetic models, we found that rs6025 and rs2036914 remained significantly associated with VT risk after multiple correction testing was performed. However, rs8176719 remained statistically significant only in the multiplicative (AOR = 1.33, 95% CI: 1.07-1.64) and genotypic models (AOR = 1.77, 95% CI: 1.14-2.73). In addition, rs2066865 lost its significant association with VT risk after multiple correction testing was performed. Conversely, the prothrombin mutation (rs1799963) did not show any significant association. The AUC of Leiden mutation (rs6025) showed better discriminative accuracy than that of other SNPs (AUC = 0.62, 95% CI: 0.57-0.66). The wGRS was a better predictor for VT than the unGRS (AUC = 0.67 vs. 0.65). Furthermore, combining genetic and non-genetic VT risk factors significantly increased the AUC to 0.89 with statistically significant differences (Z = 3.924, p < 0.0001). Conclusions: Our study revealed that the five strongly associated SNPs combined with nongenetic factors could efficiently predict individual VT risk susceptibility. The combined model was the best predictor of VT risk, so stratifying high-risk individuals based on their genetic profiling and well-known non-modifiable VT risk factors was important for the effective and efficient utilization of VT risk preventive and control measures. Furthermore, we urged further study that compares the VT risk predictability in the Hungarian population using the formerly discovered VT SNPs with the novel strongly associated VT SNPs.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Frontiers in Cardiovascular Medicine. - 10 (2023), p. 1-11. -
További szerzők:Merzah, Mohammed (1985-) Sándor János (1966-) (orvos-epidemiológus) Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Fiatal Szilvia (1978-) (epidemiológus, népegészségügyi szakember)
Pályázati támogatás:GINOP-2.3.2-15-2016-00005
GINOP
OTKA K139293
OTKA
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Intézményi repozitóriumban (DEA) tárolt változat
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3.

001-es BibID:BIBFORM097589
035-os BibID:(cikkazonosító)647416
Első szerző:Natae, Shewaye (PhD hallgató)
Cím:The Higher Prevalence of Venous Thromboembolism in the Hungarian Roma Population Could Be Due to Elevated Genetic Risk and Stronger Gene-Environmental Interactions / Natae Shewaye Fituma, Kósa Zsigmond, Sándor János, Merzah Mohammed Abdulridha, Bereczky Zsuzsanna, Pikó Péter, Ádány Róza, Fiatal Szilvia
Dátum:2021
ISSN:2297-055X
Megjegyzések:Background: Interactions between genetic and environmental risk factors (GxE) contribute to an increased risk of venous thromboembolism (VTE). Understanding how these factors interact provides insight for the early identification of at-risk groups within a population and creates an opportunity to apply appropriate preventive and curative measures. Objective: To estimate and compare GxE for VTE risk in the general Hungarian and Roma populations. Methods: The study was based on data extracted from a database consisting of results previously obtained from a complex health survey with three pillars (questionnaire-based, physical, and laboratory examinations) involving 406 general Hungarian and 395 Roma subjects. DNA was genotyped for rs121909567 (SERPINC1), rs1799963 (F2), rs2036914 (F11), rs2066865 (FGG), rs6025 (F5), and rs8176719 (ABO) polymorphisms. After allele frequency comparisons, the odds ratio (OR) was calculated for individual SNPs. Furthermore, genetic risk scores (weighted GRS, unweighted GRS) were computed to estimate the joint effect of the genetic factors. Multivariable linear regression analysis was applied to test the impact of GxE on VTE risk after interaction terms were created between genetic and VTE risk factors [diabetes mellitus (DM), cancer, chronic kidney diseases (CKD), coronary artery diseases (CAD), migraine, depression, obesity, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high density lipoprotein (HDL-C), triglyceride (TG), and smoking]. Results: Interestingly, the rs121909567 (SERPINC1, ATBp3 mutation) SNP was not present in the general population at all. However, the risk allele frequency was 1% among the Roma population, which might suggest a founder effect in this minority. This polymorphism multiplicatively interacted with CAD, CKD, cancer, DM, depression, migraine, and obesity. Even though interactions were not statistically significant, the trend of interaction showed the probability of an incremental VTE risk among the Roma population. The risk of VTE was 4.7 times higher (p > 0.05) for Roma subjects who had ?3 wGRS (median value) compared with individuals having lower wGRS values but lower for the general subjects (OR = 3.1 ? 10?8). Additionally, the risk of VTE was 6.6 times higher in the Roma population that had ?3 risk alleles (median value) than in individuals with the 0?1 risk allele, and the overall risk was much higher for the Roma population (OR = 6.6; p > 0.05) than for the general Hungarian population (OR = 1.5; p > 0.05). Five positive and significant GxE interactions were identified in the Roma population. The risk of VTE was higher among depressive Roma subjects who carried the risk variant rs2036914 ( = 0.819, p = 0.02); however, this interaction was not significant for the general subjects. The joint presence of high levels of LDL-C and rs2066865 (FGG) increased the VTE risk only among Roma individuals ( = 0.389, p = 0.002). The possibility of VTE risk increment, as a result of a multiplicative interaction between rs8176719 (ABO) and cancer, was identified, which was higher for the Roma population ( = 0.370, p < 0.001) than for the general population ( = ?0.042, p = 0.6). The VTE risk increased in the Roma population ( = 0.280, p = 0.001), but was higher in the general population ( = 0.423, p = 0.001) as a result of the multiplicative interaction between CAD and rs2036914 (F11). The presence of a multiplicative interaction between rs2066865 (FGG) and CAD increased the VTE risk for the Roma population ( = 0.143, p = 0.046) but not for the general population ( = ?0.329, p < 0.001). Conclusions: rs121909567 (SERPINC1, ATBp3) was confirmed as a founder mutation in the Roma population. Our study revealed some evidence on the burden of the joint presence of genetic and environmental risk factors on VTE, although the finding is highly subjected to the selection and observational biases due to the very small number of VTE cases and the observational nature of the study design, respectively. As a result of higher genetic load and GxE interactions, this minority Roma population is at higher risk of VTE than the general Hungarian population. Thus, our results suggest the need for an intensive search for the rs121909567 (SERPINC1; ATBp3) foundermutation, whichmight be an important factor for the assessment of thrombotic disease susceptibility among the Roma population. In addition, we strongly recommend further studies among a large number of VTE cases to explore the more precise impact of genetic and environmental risk factors on VTE in the study populations.
Tárgyszavak:Orvostudományok Egészségtudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
VTE
GxE interactions
ATBp3 mutation
SERPINC1
Roma population
general Hungarian
Megjelenés:Frontiers in Cardiovascular Medicine. - 8 (2021), p. 1-13. -
További szerzők:Kósa Zsigmond (1953-) (orvos) Sándor János (1966-) (orvos-epidemiológus) Merzah, Mohammed (1985-) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Pikó Péter (1987-) (biológus) Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Fiatal Szilvia (1978-) (epidemiológus, népegészségügyi szakember)
Pályázati támogatás:Stipendium Hungaricum Scholarship Programme
Egyéb
GINOP-2.3.2-15-2016-00005
Egyéb
GINOP-2.3.2-15-2016- 00039
Egyéb
MTA11010
Egyéb
TK2016-78
Egyéb
OTKA K116228
Egyéb
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DOI
Intézményi repozitóriumban (DEA) tárolt változat
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4.

001-es BibID:BIBFORM117090
035-os BibID:(cikkazonosító)1270093 (WoS)001116444000001 (Scopus)85179329820
Első szerző:Pituk Dóra
Cím:The association between EPCR gene p.Ser219Gly polymorphism and venous thromboembolism risk : a case-control study, meta-analysis, and a reproducibility study / Pituk Dóra, Miklós Tünde, Schlammadinger Ágota, Rázsó Katalin, Bereczky Zsuzsanna
Dátum:2023
ISSN:2297-055X
Megjegyzések:Background: The rs867186 single-nucleotide polymorphism in the PROCR gene (g.6936A > G, c.4600A > G) results in a serine-to-glycine substitution at codon 219 of endothelial protein C receptor (EPCR). We performed a case-control study followed by an updated meta-analysis of the association between this polymorphism and the risk of venous thromboembolism (VTE).Objective and methods: We enrolled 263 VTE patients and 320 unrelated healthy controls for the case-control study. The total number of cases and controls for the meta-analysis were 5,768 and 30,017, respectively. A new online MetaGenyo Statistical Analysis System software was used to perform the current meta-analysis. Furthermore, a reproducibility study was conducted to validate our results.Results: Among well-defined thrombosis risk factors, Factor V Leiden was more frequent in the VTE group (p < 0.001), while there was no difference in mutation frequency of prothrombin 20210G>A polymorphism between the two groups. There was no difference in the mutation frequency of Factor V Leiden and prothrombin 20210G>A between cases with and without provoking factors and cases with and without VTE recurrence. The rs867186 "G" carriership did not influence the risk of VTE [odds ratio (OR) 1.339; 95% confidence interval (CI): 0.904-1.984] in our study. No significant differences could be demonstrated among the rs867186 genotype frequencies between VTE cases with and without provoking factors (p = 0.430). PROCR rs867186 was associated with an OR of 1.72 (95% CI: 0.95-3.13, p = 0.075) in terms of VTE recurrence. In the meta-analysis, a significant association was found between EPCR Ser219Gly polymorphism and VTE under the dominant model (OR = 1.27, 95% CI: 1.11-1.46, p = 0.0006), the recessive model (OR = 1.60, 95% CI: 1.26-2.04, p = 0.0001), the GG vs. AA contrast model (OR = 1.64, 95% CI: 1.28-2.09, p = 0.0001), and the GA vs. AA contrast model (OR = 1.24, 95% CI: 1.08-1.43, p = 0.002).Conclusion: The rs867186 was not associated with the first VTE risk in our case-control study; however, a tendency to VTE recurrence was observed. Based on the results of our reproducibility study, MetaGenyo is acceptable for meta-analysis in case of genetic epidemiology studies. Although the risk conferred by the rs867186 is mild in all meta-analyses, including ours, identifying patients carrying the minor allele might have an impact on personalized VTE risk assessment, risk-score calculation, and patient management.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Frontiers in Cardiovascular Medicine. - 10 (2023), p. 1-14. -
További szerzők:Miklós Tünde Schlammadinger Ágota (1971-) (belgyógyász, haematológus) Molnárné Rázsó Katalin (1966-) (belgyógyász, haematológus, klinikai onkológus) Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
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Intézményi repozitóriumban (DEA) tárolt változat
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5.

001-es BibID:BIBFORM103252
035-os BibID:(cikkazonosító)901286 (WoS)000886464200001 (Scopus)85135188784
Első szerző:Székely Edina Gabriella
Cím:Low [alfa]2-Plasmin Inhibitor Antigen Levels on Admission Are Associated With More Severe Stroke and Unfavorable Outcomes in Acute Ischemic Stroke Patients Treated With Intravenous Thrombolysis / Székely Edina Gabriella, Orbán-Kálmándi Rita, Szegedi István, Katona Éva, Baráth Barbara, Czuriga-Kovács Katalin Réka, Lóczi Linda, Vasas Nikolett, Fekete István, Fekete Klára, Berényi Ervin, Oláh László, Csiba László, Bagoly Zsuzsa
Dátum:2022
ISSN:2297-055X
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Frontiers in Cardiovascular Medicine. - 9 (2022), p. 1-14. -
További szerzők:Orbán-Kálmándi Rita Angéla (1993-) (klinikai laboratóriumi kutató) Szegedi István (1969-) (hematológus, onkológus, nefrológus) Katona Éva (1961-) (klinikai biokémikus) Baráth Barbara (1991-) (orvosírnok) Czuriga-Kovács Katalin Réka (1981-) (neurológus) Lóczi Linda Molnárné Vasas Nikolett (1987-) (élettanász) Fekete István (1951-) (neurológus, pszichiáter) Fekete Klára (1978-) (neurológus) Berényi Ervin (1964-) (radiológus) Oláh László (1967-) (neurológus) Csiba László (1952-) (neurológus, pszichiáter) Bagoly Zsuzsa (1978-) (orvos)
Pályázati támogatás:GINOP-2.3.2-15-2016-00043
GINOP
K120042
OTKA
FK128582
OTKA
K120633
OTKA
UNKP-21-4-1
Egyéb
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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