TY  - JOUR
AU  - Viennas, Emmanouil
AU  - Komianou, Angeliki
AU  - Mizzi, Clint
AU  - Stojiljković, Maja
AU  - Mitropoulou, Christina
AU  - Muilu, Juha
AU  - Vihinen, Mauno
AU  - Grypioti, Panagiota
AU  - Papadaki, Styliani
AU  - Pavlidis, Cristiana
AU  - Zukić, Branka
AU  - Katsila, Theodora
AU  - van der Spek, Peter J.
AU  - Pavlović, Sonja
AU  - Tzimas, Giannis
AU  - Patrinos, George P.
PY  - 2017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1048
AB  - FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leadingmostly tomonogenic disorders and pharmacogenomics biomarkers. The database also records the incidence of rare genetic diseases in various populations, all in well-distinct data modules. Here, we report extensive data content updates in all data modules, with direct implications to clinical pharmacogenomics. Also, we report significant new developments in FINDbase, namely (i) the release of a new version of the ETHNOS software that catalyzes development curation of national/ethnic genetic databases, (ii) the migration of all FINDbase data content into 90 distinct national/ethnicmutation databases, all built around Microsoft's PivotViewer (http://www.getpivot.com) software (iii) new data visualization tools and (iv) the interrelation of FINDbase with DruGeVar database with direct implications in clinical pharmacogenomics. The abovementioned updates further enhance the impact of FIND-base, as a key resource for Genomic Medicine applications.
PB  - Oxford Univ Press, Oxford
T2  - Nucleic Acids Research
T1  - Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
EP  - D853
IS  - D1
SP  - D846
VL  - 45
DO  - 10.1093/nar/gkw949
ER  - 

@article{
author = "Viennas, Emmanouil and Komianou, Angeliki and Mizzi, Clint and Stojiljković, Maja and Mitropoulou, Christina and Muilu, Juha and Vihinen, Mauno and Grypioti, Panagiota and Papadaki, Styliani and Pavlidis, Cristiana and Zukić, Branka and Katsila, Theodora and van der Spek, Peter J. and Pavlović, Sonja and Tzimas, Giannis and Patrinos, George P.",
year = "2017",
abstract = "FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leadingmostly tomonogenic disorders and pharmacogenomics biomarkers. The database also records the incidence of rare genetic diseases in various populations, all in well-distinct data modules. Here, we report extensive data content updates in all data modules, with direct implications to clinical pharmacogenomics. Also, we report significant new developments in FINDbase, namely (i) the release of a new version of the ETHNOS software that catalyzes development curation of national/ethnic genetic databases, (ii) the migration of all FINDbase data content into 90 distinct national/ethnicmutation databases, all built around Microsoft's PivotViewer (http://www.getpivot.com) software (iii) new data visualization tools and (iv) the interrelation of FINDbase with DruGeVar database with direct implications in clinical pharmacogenomics. The abovementioned updates further enhance the impact of FIND-base, as a key resource for Genomic Medicine applications.",
publisher = "Oxford Univ Press, Oxford",
journal = "Nucleic Acids Research",
title = "Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies",
pages = "D853-D846",
number = "D1",
volume = "45",
doi = "10.1093/nar/gkw949"
}

Viennas, E., Komianou, A., Mizzi, C., Stojiljković, M., Mitropoulou, C., Muilu, J., Vihinen, M., Grypioti, P., Papadaki, S., Pavlidis, C., Zukić, B., Katsila, T., van der Spek, P. J., Pavlović, S., Tzimas, G.,& Patrinos, G. P.. (2017). Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. in Nucleic Acids Research
Oxford Univ Press, Oxford., 45(D1), D846-D853.
https://doi.org/10.1093/nar/gkw949

Viennas E, Komianou A, Mizzi C, Stojiljković M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukić B, Katsila T, van der Spek PJ, Pavlović S, Tzimas G, Patrinos GP. Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies. in Nucleic Acids Research. 2017;45(D1):D846-D853.
doi:10.1093/nar/gkw949 .

Viennas, Emmanouil, Komianou, Angeliki, Mizzi, Clint, Stojiljković, Maja, Mitropoulou, Christina, Muilu, Juha, Vihinen, Mauno, Grypioti, Panagiota, Papadaki, Styliani, Pavlidis, Cristiana, Zukić, Branka, Katsila, Theodora, van der Spek, Peter J., Pavlović, Sonja, Tzimas, Giannis, Patrinos, George P., "Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies" in Nucleic Acids Research, 45, no. D1 (2017):D846-D853,
https://doi.org/10.1093/nar/gkw949 . .

TY  - JOUR
AU  - Ugrin, Milena
AU  - Stojiljković, Maja
AU  - Zukić, Branka
AU  - Klaassen, Kristel
AU  - Katsila, Theodora
AU  - Komazec, Jovana
AU  - Dokmanović, Lidija
AU  - Janić, Dragana
AU  - Patrinos, George P.
AU  - Pavlović, Sonja
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/975
AB  - Hereditary persistence of fetal hemoglobin (HPFH) is a condition characterized by persistent -globin gene expression and synthesis of high levels of fetal hemoglobin (Hb F; 22) during adult life. It is usually caused by promoter variants or large deletions affecting the human fetal globin (HBG1 and HBG2) genes. Some of these HPFH-causing variants, such as HBG2: g.-158C gt T, exert their effect only under conditions of erythropoietic stress, typical for -thalassemia (-thal) patients. Namely, the presence of HBG2: g.-158C gt T favors a higher Hb F response, while it has little effect in healthy individuals. We analyzed a previously reported deletion residing in the promoter region of the HBG1 gene (HBG1: g.-225_-222delAGCA), both in normal conditions and under conditions of erythropoietic stress. Our results indicate that this deletion is responsible for decreased HBG1 gene expression. Specifically, this deletion was shown to result in drastically reduced reporter gene expression in K562 cells, compared to the wild-type sequence but only under conditions of erythropoietic stress, mimicked by introduction of erythropoietin (EPO) into the cell culture. Also, electrophoretic mobility shift analysis showed that the HBG1: g.-225_-222delAGCA deletion creates additional transcriptional factors' binding sites, which, we propose, bind a transcriptional repressor, thus decreasing the HBG1 gene promoter activity. These results are consistent with in silico analysis, which indicated that this deletion creates a binding site for GATA1, known to be a repressor of the -globin gene expression. These data confirm the regulatory role of the HBG1: g.-225_-222 region that exerts its effect under conditions of erythropoietic stress characteristic for -thal patients.
PB  - Taylor & Francis Ltd, Abingdon
T2  - Hemoglobin
T1  - Functional Analysis of an (A)gamma-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress
EP  - 52
IS  - 1
SP  - 48
VL  - 40
DO  - 10.3109/03630269.2015.1107842
ER  - 

@article{
author = "Ugrin, Milena and Stojiljković, Maja and Zukić, Branka and Klaassen, Kristel and Katsila, Theodora and Komazec, Jovana and Dokmanović, Lidija and Janić, Dragana and Patrinos, George P. and Pavlović, Sonja",
year = "2016",
abstract = "Hereditary persistence of fetal hemoglobin (HPFH) is a condition characterized by persistent -globin gene expression and synthesis of high levels of fetal hemoglobin (Hb F; 22) during adult life. It is usually caused by promoter variants or large deletions affecting the human fetal globin (HBG1 and HBG2) genes. Some of these HPFH-causing variants, such as HBG2: g.-158C gt T, exert their effect only under conditions of erythropoietic stress, typical for -thalassemia (-thal) patients. Namely, the presence of HBG2: g.-158C gt T favors a higher Hb F response, while it has little effect in healthy individuals. We analyzed a previously reported deletion residing in the promoter region of the HBG1 gene (HBG1: g.-225_-222delAGCA), both in normal conditions and under conditions of erythropoietic stress. Our results indicate that this deletion is responsible for decreased HBG1 gene expression. Specifically, this deletion was shown to result in drastically reduced reporter gene expression in K562 cells, compared to the wild-type sequence but only under conditions of erythropoietic stress, mimicked by introduction of erythropoietin (EPO) into the cell culture. Also, electrophoretic mobility shift analysis showed that the HBG1: g.-225_-222delAGCA deletion creates additional transcriptional factors' binding sites, which, we propose, bind a transcriptional repressor, thus decreasing the HBG1 gene promoter activity. These results are consistent with in silico analysis, which indicated that this deletion creates a binding site for GATA1, known to be a repressor of the -globin gene expression. These data confirm the regulatory role of the HBG1: g.-225_-222 region that exerts its effect under conditions of erythropoietic stress characteristic for -thal patients.",
publisher = "Taylor & Francis Ltd, Abingdon",
journal = "Hemoglobin",
title = "Functional Analysis of an (A)gamma-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress",
pages = "52-48",
number = "1",
volume = "40",
doi = "10.3109/03630269.2015.1107842"
}

Ugrin, M., Stojiljković, M., Zukić, B., Klaassen, K., Katsila, T., Komazec, J., Dokmanović, L., Janić, D., Patrinos, G. P.,& Pavlović, S.. (2016). Functional Analysis of an (A)gamma-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress. in Hemoglobin
Taylor & Francis Ltd, Abingdon., 40(1), 48-52.
https://doi.org/10.3109/03630269.2015.1107842

Ugrin M, Stojiljković M, Zukić B, Klaassen K, Katsila T, Komazec J, Dokmanović L, Janić D, Patrinos GP, Pavlović S. Functional Analysis of an (A)gamma-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress. in Hemoglobin. 2016;40(1):48-52.
doi:10.3109/03630269.2015.1107842 .

Ugrin, Milena, Stojiljković, Maja, Zukić, Branka, Klaassen, Kristel, Katsila, Theodora, Komazec, Jovana, Dokmanović, Lidija, Janić, Dragana, Patrinos, George P., Pavlović, Sonja, "Functional Analysis of an (A)gamma-Globin Gene Promoter Variant (HBG1: g.-225_-222delAGCA) Underlines Its Role in Increasing Fetal Hemoglobin Levels Under Erythropoietic Stress" in Hemoglobin, 40, no. 1 (2016):48-52,
https://doi.org/10.3109/03630269.2015.1107842 . .

TY  - JOUR
AU  - Mizzi, Clint
AU  - Dalabira, Eleni
AU  - Kumuthini, Judit
AU  - Dzimiri, Nduna
AU  - Balogh, Istvan
AU  - Basak, Nazli
AU  - Boehm, Ruwen
AU  - Borg, Joseph
AU  - Borgiani, Paola
AU  - Bozina, Nada
AU  - Bruckmueller, Henrike
AU  - Burzynska, Beata
AU  - Carracedo, Angel
AU  - Cascorbi, Ingolf
AU  - Deltas, Constantinos
AU  - Dolzan, Vita
AU  - Fenech, Anthony
AU  - Grech, Godfrey
AU  - Kasiulevicius, Vytautas
AU  - Kadasi, L'udevit
AU  - Kucinskas, Vaidutis
AU  - Khusnutdinova, Elza
AU  - Loukas, Yiannis L.
AU  - Macek, Milan, Jr.
AU  - Makukh, Halyna
AU  - Mathijssen, Ron
AU  - Mitropoulos, Konstantinos
AU  - Mitropoulou, Christina
AU  - Novelli, Giuseppe
AU  - Papantoni, Ioanna
AU  - Pavlović, Sonja
AU  - Saglio, Giuseppe
AU  - Setrić, Jadranka
AU  - Stojiljković, Maja
AU  - Stubbs, Andrew P.
AU  - Squassina, Alessio
AU  - Torres, Maria
AU  - Turnovec, Marek
AU  - van Schaik, Ron H.
AU  - Voskarides, Konstantinos
AU  - Wakil, Salma M.
AU  - Werk, Anneke
AU  - del Zompo, Maria
AU  - Zukić, Branka
AU  - Katsila, Theodora
AU  - Lee, Ming Ta Michael
AU  - Motsinger-Rief, Alison
AU  - Mc Leod, Howard L.
AU  - van der Spek, Peter J.
AU  - Patrinos, George P.
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/909
AB  - Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and transport. In several European populations, particularly in countries with lower income, information related to the prevalence of pharmacogenomic biomarkers is incomplete or lacking. Here, we have implemented the microattribution approach to assess the pharmacogenomic biomarkers allelic spectrum in 18 European populations, mostly from developing European countries, by analyzing 1,931 pharmacogenomics biomarkers in 231 genes. Our data show significant interpopulation pharmacogenomic biomarker allele frequency differences, particularly in 7 clinically actionable pharmacogenomic biomarkers in 7 European populations, affecting drug efficacy and/ or toxicity of 51 medication treatment modalities. These data also reflect on the differences observed in the prevalence of high-risk genotypes in these populations, as far as common markers in the CYP2C9, CYP2C19, CYP3A5, VKORC1, SLCO1B1 and TPMT pharmacogenes are concerned. Also, our data demonstrate notable differences in predicted genotype-based warfarin dosing among these populations. Our findings can be exploited not only to develop guidelines for medical prioritization, but most importantly to facilitate integration of pharmacogenomics and to support pre-emptive pharmacogenomic testing. This may subsequently contribute towards significant cost-savings in the overall healthcare expenditure in the participating countries, where pharmacogenomics implementation proves to be cost-effective.
PB  - Public Library Science, San Francisco
T2  - PLoS One
T1  - A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics
IS  - 9
VL  - 11
DO  - 10.1371/journal.pone.0162866
ER  - 

@article{
author = "Mizzi, Clint and Dalabira, Eleni and Kumuthini, Judit and Dzimiri, Nduna and Balogh, Istvan and Basak, Nazli and Boehm, Ruwen and Borg, Joseph and Borgiani, Paola and Bozina, Nada and Bruckmueller, Henrike and Burzynska, Beata and Carracedo, Angel and Cascorbi, Ingolf and Deltas, Constantinos and Dolzan, Vita and Fenech, Anthony and Grech, Godfrey and Kasiulevicius, Vytautas and Kadasi, L'udevit and Kucinskas, Vaidutis and Khusnutdinova, Elza and Loukas, Yiannis L. and Macek, Milan, Jr. and Makukh, Halyna and Mathijssen, Ron and Mitropoulos, Konstantinos and Mitropoulou, Christina and Novelli, Giuseppe and Papantoni, Ioanna and Pavlović, Sonja and Saglio, Giuseppe and Setrić, Jadranka and Stojiljković, Maja and Stubbs, Andrew P. and Squassina, Alessio and Torres, Maria and Turnovec, Marek and van Schaik, Ron H. and Voskarides, Konstantinos and Wakil, Salma M. and Werk, Anneke and del Zompo, Maria and Zukić, Branka and Katsila, Theodora and Lee, Ming Ta Michael and Motsinger-Rief, Alison and Mc Leod, Howard L. and van der Spek, Peter J. and Patrinos, George P.",
year = "2016",
abstract = "Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and transport. In several European populations, particularly in countries with lower income, information related to the prevalence of pharmacogenomic biomarkers is incomplete or lacking. Here, we have implemented the microattribution approach to assess the pharmacogenomic biomarkers allelic spectrum in 18 European populations, mostly from developing European countries, by analyzing 1,931 pharmacogenomics biomarkers in 231 genes. Our data show significant interpopulation pharmacogenomic biomarker allele frequency differences, particularly in 7 clinically actionable pharmacogenomic biomarkers in 7 European populations, affecting drug efficacy and/ or toxicity of 51 medication treatment modalities. These data also reflect on the differences observed in the prevalence of high-risk genotypes in these populations, as far as common markers in the CYP2C9, CYP2C19, CYP3A5, VKORC1, SLCO1B1 and TPMT pharmacogenes are concerned. Also, our data demonstrate notable differences in predicted genotype-based warfarin dosing among these populations. Our findings can be exploited not only to develop guidelines for medical prioritization, but most importantly to facilitate integration of pharmacogenomics and to support pre-emptive pharmacogenomic testing. This may subsequently contribute towards significant cost-savings in the overall healthcare expenditure in the participating countries, where pharmacogenomics implementation proves to be cost-effective.",
publisher = "Public Library Science, San Francisco",
journal = "PLoS One",
title = "A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics",
number = "9",
volume = "11",
doi = "10.1371/journal.pone.0162866"
}

Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, I., Basak, N., Boehm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, H., Burzynska, B., Carracedo, A., Cascorbi, I., Deltas, C., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kadasi, L., Kucinskas, V., Khusnutdinova, E., Loukas, Y. L., Macek, M. Jr., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlović, S., Saglio, G., Setrić, J., Stojiljković, M., Stubbs, A. P., Squassina, A., Torres, M., Turnovec, M., van Schaik, R. H., Voskarides, K., Wakil, S. M., Werk, A., del Zompo, M., Zukić, B., Katsila, T., Lee, M. T. M., Motsinger-Rief, A., Mc Leod, H. L., van der Spek, P. J.,& Patrinos, G. P.. (2016). A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. in PLoS One
Public Library Science, San Francisco., 11(9).
https://doi.org/10.1371/journal.pone.0162866

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Basak N, Boehm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kadasi L, Kucinskas V, Khusnutdinova E, Loukas YL, Macek MJ, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlović S, Saglio G, Setrić J, Stojiljković M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, del Zompo M, Zukić B, Katsila T, Lee MTM, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP. A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. in PLoS One. 2016;11(9).
doi:10.1371/journal.pone.0162866 .

Mizzi, Clint, Dalabira, Eleni, Kumuthini, Judit, Dzimiri, Nduna, Balogh, Istvan, Basak, Nazli, Boehm, 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, Kadasi, L'udevit, Kucinskas, Vaidutis, Khusnutdinova, Elza, Loukas, Yiannis L., Macek, Milan, Jr., Makukh, Halyna, Mathijssen, Ron, Mitropoulos, Konstantinos, Mitropoulou, Christina, Novelli, Giuseppe, Papantoni, Ioanna, Pavlović, Sonja, Saglio, Giuseppe, Setrić, Jadranka, Stojiljković, Maja, Stubbs, Andrew P., Squassina, Alessio, Torres, Maria, Turnovec, Marek, van Schaik, Ron H., Voskarides, Konstantinos, Wakil, Salma M., Werk, Anneke, del Zompo, Maria, Zukić, Branka, Katsila, Theodora, Lee, Ming Ta Michael, Motsinger-Rief, Alison, Mc Leod, Howard L., van der Spek, Peter J., Patrinos, George P., "A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics" in PLoS One, 11, no. 9 (2016),
https://doi.org/10.1371/journal.pone.0162866 . .

TY  - JOUR
AU  - Balasopoulou, Angeliki
AU  - Stanković, Biljana
AU  - Panagiotara, Angeliki
AU  - Nikčević, Gordana
AU  - Peters, Brock A.
AU  - John, Anne
AU  - Mendrinou, Effrosyni
AU  - Stratopoulos, Apostolos
AU  - Legaki, Aigli Ioanna
AU  - Stathakopoulou, Vasiliki
AU  - Tsolia, Aristoniki
AU  - Govaris, Nikolaos
AU  - Govari, Sofia
AU  - Zagoriti, Zoi
AU  - Poulas, Konstantinos
AU  - Kanariou, Maria
AU  - Constantinidou, Nikki
AU  - Krini, Maro
AU  - Spanou, Kleopatra
AU  - Radlović, Nedeljko
AU  - Ali, Bassam R.
AU  - Borg, Joseph
AU  - Drmanac, Radoje
AU  - Chrousos, George
AU  - Pavlović, Sonja
AU  - Roma, Eleftheria
AU  - Zukić, Branka
AU  - Patrinos, George P.
AU  - Katsila, Theodora
PY  - 2016
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/918
AB  - Background: Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-making in the clinic. Methods: Herein, we adopted a next-generation sequencing approach in a celiac disease trio of Greek descent to identify all genomic variants with the potential of celiac disease predisposition. Results: Analysis revealed six genomic variants of prime interest: SLC9A4 c.1919G gt A, KIAA1109 c.2933T gt C and c. 4268_4269delCCinsTA, HoxB6 c.668C gt A, HoxD12 c.418G gt A, and NCK2 c.745_746delAAinsG, from which NCK2 c.745_746delAAinsG is novel. Data validation in pediatric celiac disease patients of Greek (n=109) and Serbian (n=73) descent and their healthy counterparts (n=111 and n=32, respectively) indicated that HoxD12 c.418G gt A is more prevalent in celiac disease patients in the Serbian population (P  lt  0.01), while NCK2 c.745_746delAAinsG is less prevalent in celiac disease patients rather than healthy individuals of Greek descent (P = 0. 03). SLC9A4 c.1919G gt A and KIAA1109 c.2933T gt C and c.4268_4269delCCinsTA were more abundant in patients; nevertheless, they failed to show statistical significance. Conclusions: The next-generation sequencing-based family genomics approach described herein may serve as a paradigm towards the identification of novel functional variants with the aim of understanding complex disease pathobiology.
PB  - Biomed Central Ltd, London
T2  - Human Genomics
T1  - Novel genetic risk variants for pediatric celiac disease
VL  - 10
DO  - 10.1186/s40246-016-0091-1
ER  - 

@article{
author = "Balasopoulou, Angeliki and Stanković, Biljana and Panagiotara, Angeliki and Nikčević, Gordana and Peters, Brock A. and John, Anne and Mendrinou, Effrosyni and Stratopoulos, Apostolos and Legaki, Aigli Ioanna and Stathakopoulou, Vasiliki and Tsolia, Aristoniki and Govaris, Nikolaos and Govari, Sofia and Zagoriti, Zoi and Poulas, Konstantinos and Kanariou, Maria and Constantinidou, Nikki and Krini, Maro and Spanou, Kleopatra and Radlović, Nedeljko and Ali, Bassam R. and Borg, Joseph and Drmanac, Radoje and Chrousos, George and Pavlović, Sonja and Roma, Eleftheria and Zukić, Branka and Patrinos, George P. and Katsila, Theodora",
year = "2016",
abstract = "Background: Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-making in the clinic. Methods: Herein, we adopted a next-generation sequencing approach in a celiac disease trio of Greek descent to identify all genomic variants with the potential of celiac disease predisposition. Results: Analysis revealed six genomic variants of prime interest: SLC9A4 c.1919G gt A, KIAA1109 c.2933T gt C and c. 4268_4269delCCinsTA, HoxB6 c.668C gt A, HoxD12 c.418G gt A, and NCK2 c.745_746delAAinsG, from which NCK2 c.745_746delAAinsG is novel. Data validation in pediatric celiac disease patients of Greek (n=109) and Serbian (n=73) descent and their healthy counterparts (n=111 and n=32, respectively) indicated that HoxD12 c.418G gt A is more prevalent in celiac disease patients in the Serbian population (P  lt  0.01), while NCK2 c.745_746delAAinsG is less prevalent in celiac disease patients rather than healthy individuals of Greek descent (P = 0. 03). SLC9A4 c.1919G gt A and KIAA1109 c.2933T gt C and c.4268_4269delCCinsTA were more abundant in patients; nevertheless, they failed to show statistical significance. Conclusions: The next-generation sequencing-based family genomics approach described herein may serve as a paradigm towards the identification of novel functional variants with the aim of understanding complex disease pathobiology.",
publisher = "Biomed Central Ltd, London",
journal = "Human Genomics",
title = "Novel genetic risk variants for pediatric celiac disease",
volume = "10",
doi = "10.1186/s40246-016-0091-1"
}

Balasopoulou, A., Stanković, B., Panagiotara, A., Nikčević, G., Peters, B. A., John, A., Mendrinou, E., Stratopoulos, A., Legaki, A. I., Stathakopoulou, V., Tsolia, A., Govaris, N., Govari, S., Zagoriti, Z., Poulas, K., Kanariou, M., Constantinidou, N., Krini, M., Spanou, K., Radlović, N., Ali, B. R., Borg, J., Drmanac, R., Chrousos, G., Pavlović, S., Roma, E., Zukić, B., Patrinos, G. P.,& Katsila, T.. (2016). Novel genetic risk variants for pediatric celiac disease. in Human Genomics
Biomed Central Ltd, London., 10.
https://doi.org/10.1186/s40246-016-0091-1

Balasopoulou A, Stanković B, Panagiotara A, Nikčević G, Peters BA, John A, Mendrinou E, Stratopoulos A, Legaki AI, Stathakopoulou V, Tsolia A, Govaris N, Govari S, Zagoriti Z, Poulas K, Kanariou M, Constantinidou N, Krini M, Spanou K, Radlović N, Ali BR, Borg J, Drmanac R, Chrousos G, Pavlović S, Roma E, Zukić B, Patrinos GP, Katsila T. Novel genetic risk variants for pediatric celiac disease. in Human Genomics. 2016;10.
doi:10.1186/s40246-016-0091-1 .

Balasopoulou, Angeliki, Stanković, Biljana, Panagiotara, Angeliki, Nikčević, Gordana, Peters, Brock A., John, Anne, Mendrinou, Effrosyni, Stratopoulos, Apostolos, Legaki, Aigli Ioanna, Stathakopoulou, Vasiliki, Tsolia, Aristoniki, Govaris, Nikolaos, Govari, Sofia, Zagoriti, Zoi, Poulas, Konstantinos, Kanariou, Maria, Constantinidou, Nikki, Krini, Maro, Spanou, Kleopatra, Radlović, Nedeljko, Ali, Bassam R., Borg, Joseph, Drmanac, Radoje, Chrousos, George, Pavlović, Sonja, Roma, Eleftheria, Zukić, Branka, Patrinos, George P., Katsila, Theodora, "Novel genetic risk variants for pediatric celiac disease" in Human Genomics, 10 (2016),
https://doi.org/10.1186/s40246-016-0091-1 . .

TY  - JOUR
AU  - Kotur, Nikola
AU  - Dokmanović, Lidija
AU  - Janić, Dragana
AU  - Stanković, Biljana
AU  - Krstovski, Nada
AU  - Tošić, Nataša
AU  - Katsila, Theodora
AU  - Patrinos, George P.
AU  - Zukić, Branka
AU  - Pavlović, Sonja
PY  - 2015
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/842
AB  - Aims: 6-mercaptopurine influences in vitro TPMT gene expression in a TPMT promoter variable number of tandem repeats (VNTR)-dependent manner. We studied TPMT expression following 6-mercaptopurine and methotrexate administration in childhood acute lymphoblastic leukemia (ALL) patients and the pharmacogenomic potential of the VNTR architecture. Materials & methods:TPMT gene expression was determined in childhood ALL patients at diagnosis (n = 57) and during the maintenance therapy (n = 27). Results: A threefold increase of TPMT gene expression was obtained during maintenance therapy, modulated by the architecture of the VNTR region. Conclusion: The TPMT promoter genetic variants need to be considered at the very beginning of the maintenance therapy for childhood ALL patients. The TPMT promoter VNTR region may serve as a pharmacogenomic biomarker when introducing thiopurine therapy.
PB  - Future Medicine Ltd, London
T2  - Pharmacogenomics
T1  - TPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent manner
EP  - 1712
IS  - 15
SP  - 1701
VL  - 16
DO  - 10.2217/pgs.15.109
ER  - 

@article{
author = "Kotur, Nikola and Dokmanović, Lidija and Janić, Dragana and Stanković, Biljana and Krstovski, Nada and Tošić, Nataša and Katsila, Theodora and Patrinos, George P. and Zukić, Branka and Pavlović, Sonja",
year = "2015",
abstract = "Aims: 6-mercaptopurine influences in vitro TPMT gene expression in a TPMT promoter variable number of tandem repeats (VNTR)-dependent manner. We studied TPMT expression following 6-mercaptopurine and methotrexate administration in childhood acute lymphoblastic leukemia (ALL) patients and the pharmacogenomic potential of the VNTR architecture. Materials & methods:TPMT gene expression was determined in childhood ALL patients at diagnosis (n = 57) and during the maintenance therapy (n = 27). Results: A threefold increase of TPMT gene expression was obtained during maintenance therapy, modulated by the architecture of the VNTR region. Conclusion: The TPMT promoter genetic variants need to be considered at the very beginning of the maintenance therapy for childhood ALL patients. The TPMT promoter VNTR region may serve as a pharmacogenomic biomarker when introducing thiopurine therapy.",
publisher = "Future Medicine Ltd, London",
journal = "Pharmacogenomics",
title = "TPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent manner",
pages = "1712-1701",
number = "15",
volume = "16",
doi = "10.2217/pgs.15.109"
}

Kotur, N., Dokmanović, L., Janić, D., Stanković, B., Krstovski, N., Tošić, N., Katsila, T., Patrinos, G. P., Zukić, B.,& Pavlović, S.. (2015). TPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent manner. in Pharmacogenomics
Future Medicine Ltd, London., 16(15), 1701-1712.
https://doi.org/10.2217/pgs.15.109

Kotur N, Dokmanović L, Janić D, Stanković B, Krstovski N, Tošić N, Katsila T, Patrinos GP, Zukić B, Pavlović S. TPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent manner. in Pharmacogenomics. 2015;16(15):1701-1712.
doi:10.2217/pgs.15.109 .

Kotur, Nikola, Dokmanović, Lidija, Janić, Dragana, Stanković, Biljana, Krstovski, Nada, Tošić, Nataša, Katsila, Theodora, Patrinos, George P., Zukić, Branka, Pavlović, Sonja, "TPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent manner" in Pharmacogenomics, 16, no. 15 (2015):1701-1712,
https://doi.org/10.2217/pgs.15.109 . .