Találati lista | Tudóstér

001-es BibID:	BIBFORM042063
Első szerző:	Losonczy Gergely (szemész)
Cím:	Effect of the Gas6 c.834+7G>A Polymorphism and the Interaction of Known Risk Factors on AMD Pathogenesis in Hungarian Patients / Gergely Losonczy, Attila Vajas, Lili Takács, Erika Dzsudzsák, Ágnes Fekete, Éva Márhoffer, László Kardos, Éva Ajzner, Begoña Hurtado, Pablo Garcia de Frutos, András Berta, István Balogh
Dátum:	2012
Megjegyzések:	Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly in the developed world. Numerous genetic factors contribute to the development of the multifactorial disease. We performed a case-control study to assess the risk conferred by known and candidate genetic polymorphisms on the development of AMD. We searched for genetic interactions and for differences in dry and wet AMD etiology. We enrolled 213 patients with exudative, 67 patients with dry AMD and 106 age and ethnically matched controls. Altogether 12 polymorphisms in Apolipoprotein E, complement factor H, complement factor I, complement component 3, blood coagulation factor XIII, HTRA1, LOC387715, Gas6 and MerTK genes were tested. No association was found between either the exudative or the dry form and the polymorphisms in the Apolipoprotein E, complement factor I, FXIII and MerTK genes. Gas6 c.834+7G>A polymorphism was found to be significantly protective irrespective of other genotypes, reducing the odds of wet type AMD by a half (OR = 0.50, 95%CI: 0.26-0.97, p = 0.04). Multiple regression models revealed an interesting genetic interaction in the dry AMD subgroup. In the absence of C3 risk allele, mutant genotypes of both CFH and HTRA1 behaved as strongly significant risk factors (OR = 7.96, 95%CI: 2.39 = 26.50, p = 0.0007, and OR = 36.02, 95%CI: 3.30-393.02, p = 0.0033, respectively), but reduced to neutrality otherwise. The risk allele of C3 was observed to carry a significant risk in the simultaneous absence of homozygous CFH and HTRA1 polymorphisms only, in which case it was associated with a near-five-fold relative increase in the odds of dry type AMD (OR = 4.93, 95%CI: 1.98-12.25, p = 0.0006). Our results suggest a protective role of Gas6 c.834+7G>A polymorphism in exudative AMD development. In addition, novel genetic interactions were revealed between CFH, HTRA1 and C3 polymorphisms that might contribute to the pathogenesis of dry AMD.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban egyetemen (Magyarországon) készült közlemény
Megjelenés:	PLoS One. - 7 : 11 (2012), p. e50181. -
További szerzők:	Vajas Attila (1973-) (szemész) Takács Lili (1969-) (szemész) Dzsudzsák Erika Fekete Ágnes Márhoffer Éva Kardos László (1970-) (megelőző orvostan és népegészségtan szakorvos) Ajzner Éva (1968-) (laboratóriumi szakorvos) Hurtado, Begona de Frutos, Pablo Garcia Berta András (1955-) (szemész, gyermekszemész) Balogh István (1972-) (molekuláris biológus, genetikus)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM068910
035-os BibID:	(cikkazonosító)e0162866 (WOS)000383723700018 (Scopus)84992409620
Első szerző:	Mizzi, Clint
Cím:	A European Spectrum of Pharmacogenomic Biomarkers : implications for Clinical Pharmacogenomics / Mizzi Clint, Dalabira Eleni, Kumuthini Judit, Dzimiri Nduna, Balogh Istvan, Başak Nazli, Böhm Ruwen, Borg Joseph, Borgiani Paola, Bozina Nada, Bruckmueller Henrike, Burzynska Beata, Carracedo Angel, Cascorbi Ingolf, Deltas Constantinos, Dolzan Vita, Fenech Anthony, Grech Godfrey, Kasiulevicius Vytautas, Kádaši Ludevít, Kučinskas Vaidutis, Khusnutdinova Elza, Loukas Yiannis L., Macek Milan, Makukh Halyna, Mathijssen Ron, Mitropoulos Konstantinos, Mitropoulou Christina, Novelli Giuseppe, Papantoni Ioanna, Pavlovic Sonja, Saglio Giuseppe, Setric Jadranka, Stojiljkovic Maja, Stubbs Andrew P., Squassina Alessio, Torres Maria, Turnovec Marek, van Schaik Ron H., Voskarides Konstantinos, Wakil Salma M., Werk Anneke, del Zompo Maria, Zukic Branka, Katsila Theodora, Lee Ming Ta Michael, Motsinger-Rief Alison, Mc Leod Howard L., van der Spek Peter J., Patrinos George P.
Dátum:	2016
ISSN:	1932-6203
Megjegyzések:	Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicitywith the underlying genetic composition, particularly in genes encoding for protein factorsand enzymes involved in drug metabolism and transport. In several Europeanpopulations, particularly in countries with lower income, information related to the prevalenceof pharmacogenomic biomarkers is incomplete or lacking. Here, we have implementedthe microattribution approach to assess the pharmacogenomic biomarkers allelicspectrum in 18 European populations, mostly from developing European countries, by analyzing1,931 pharmacogenomics biomarkers in 231 genes. Our data show significant interpopulationpharmacogenomic biomarker allele frequency differences, particularly in 7 clinicallyactionable pharmacogenomic biomarkers in 7 European populations, affecting drugefficacy and/or toxicity of 51 medication treatment modalities. These data also reflect on thedifferences observed in the prevalence of high-risk genotypes in these populations, as faras common markers in the CYP2C9, CYP2C19, CYP3A5, VKORC1, SLCO1B1 and TPMTpharmacogenes are concerned. Also, our data demonstrate notable differences in predictedgenotype-based warfarin dosing among these populations. Our findings can beexploited not only to develop guidelines for medical prioritization, but most importantly tofacilitate integration of pharmacogenomics and to support pre-emptive pharmacogenomictesting. This may subsequently contribute towards significant cost-savings in the overallhealthcare expenditure in the participating countries, where pharmacogenomics implementationproves to be cost-effective.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Plos One. - 11 : 9 (2016), p. 1-19. -
További szerzők:	Dalabira, Eleni Kumuthini Judit Dzimiri, Nduna Balogh István (1972-) (molekuláris biológus, genetikus) Başak, Nazli Böhm, Ruwen Borg, Joseph Borgiani, Paola Bozina, Nada Bruckmueller, Henrike Burzynska, Beata Carracedo, Angel Cascorbi, Ingolf Deltas, Constantinos Dolzan, Vita Fenech, Anthony Grech, Godfrey Kasiulevicius, Vytautas Kádaši, Ludevít Kučinskas, Vaidutis Khusnutdinova, Elza Loukas, Yiannis L. Macek Jr., Milan Makukh, Halyna Mathijssen, Ron Mitropoulos, Konstantinos Mitropoulou, Christina Novelli, Giuseppe Papantoni, Ioanna Pavlovic, Sonja Saglio, Giuseppe Setric, Jadranka Stojiljkovic, Maja Stubbs, Andrew P. Squassina, Alessio Torres, Maria Turnovec, Marek van Schaik, Ron H. Voskarides, Konstantinos Wakil, Salma M. Werk, Anneke del Zompo, Maria Zukic, Branka Katsila, Theodora Lee, Ming Ta Michael Motsinger-Rief, Alison Mc Leod, Howard L. Van der Spek, Peter J. Patrinos, George P.
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: