TY  - CONF
AU  - Anđelković, Marina
AU  - Minić, Predrag
AU  - Vreca, M.
AU  - Stojiljković, Maja
AU  - Skakić, Anita
AU  - Sovtić, A.
AU  - Rodić, M.
AU  - Skodrić-Trifunović, V.
AU  - Marić, N.
AU  - Visekruna, J.
AU  - Spasovski, Vesna
AU  - Pavlović, Sonja
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1228
PB  - Nature Publishing Group, London
C3  - European Journal of Human Genetics
T1  - The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases
EP  - 90
SP  - 89
VL  - 27
UR  - https://hdl.handle.net/21.15107/rcub_imagine_1228
ER  - 

@conference{
author = "Anđelković, Marina and Minić, Predrag and Vreca, M. and Stojiljković, Maja and Skakić, Anita and Sovtić, A. and Rodić, M. and Skodrić-Trifunović, V. and Marić, N. and Visekruna, J. and Spasovski, Vesna and Pavlović, Sonja",
year = "2019",
publisher = "Nature Publishing Group, London",
journal = "European Journal of Human Genetics",
title = "The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases",
pages = "90-89",
volume = "27",
url = "https://hdl.handle.net/21.15107/rcub_imagine_1228"
}

Anđelković, M., Minić, P., Vreca, M., Stojiljković, M., Skakić, A., Sovtić, A., Rodić, M., Skodrić-Trifunović, V., Marić, N., Visekruna, J., Spasovski, V.,& Pavlović, S.. (2019). The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases. in European Journal of Human Genetics
Nature Publishing Group, London., 27, 89-90.
https://hdl.handle.net/21.15107/rcub_imagine_1228

Anđelković M, Minić P, Vreca M, Stojiljković M, Skakić A, Sovtić A, Rodić M, Skodrić-Trifunović V, Marić N, Visekruna J, Spasovski V, Pavlović S. The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases. in European Journal of Human Genetics. 2019;27:89-90.
https://hdl.handle.net/21.15107/rcub_imagine_1228 .

Anđelković, Marina, Minić, Predrag, Vreca, M., Stojiljković, Maja, Skakić, Anita, Sovtić, A., Rodić, M., Skodrić-Trifunović, V., Marić, N., Visekruna, J., Spasovski, Vesna, Pavlović, Sonja, "The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseases" in European Journal of Human Genetics, 27 (2019):89-90,
https://hdl.handle.net/21.15107/rcub_imagine_1228 .

TY  - JOUR
AU  - Vuković, M.
AU  - Radlović, N.
AU  - Leković, Z.
AU  - Vucicević, K.
AU  - Marić, N.
AU  - Kotur, Nikola
AU  - Gašić, Vladimir
AU  - Ugrin, Milena
AU  - Stojiljković, Maja
AU  - Dokmanović, Lidija
AU  - Zukić, Branka
AU  - Pavlović, Sonja
PY  - 2018
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1153
AB  - The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyper-bilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT I Al activity and non-risk GS allele. Also, the UGT1A1 (TA)(n) promoter genotype is recognized as a clinically relevant phannacogenetic marker. The aim of this study was to access diagnostic value of UGTIAI (TA) n promoter genotyping in pediatric GS patients. Correlation of the UGT1A1(TA)(n) genotypes and level of unconjugated bilirubin at diagnosis and after hypocaloric and phenobarbitone tests in these patients was analyzed. Another aim of the study was to assess phannacogenetic potential ofUGT1A1 (TA)(n) variants in Serbia. Fifty-one pediatric GS patients and 100 healthy individuals were genotyped using different methodologies, polymerise chain reaction (PCR) followed by acrylamide electrophoresis, fragment length analysis and/or DNA sequencing. Concordance of the UGT1A1 (TA)(n) promoter risk GS genotypes with GS was found in 80.0% of patients. Therefore, UGT1A1 (TA)(n) promoter genotyping is not a reliable genetic test for GS, but it is useful for differential diagnosis of diseases associated with hyperbilirubinemia. Level of bilimbin in pediatric GS patients at diagnosis wasUGT1A1 (TA)(n) promoter genotype-dependent. We found that the frequency of phannacogenetic relevant UGT1A1 (TA)(n) promoter genotypes was 63.0%, pointing out that UGT1A1 (TA)(n) promoter genoty ping could be recommended for preemptive pharmacogendic testing in Serbia.
PB  - Macedonian Acad Sciences Arts, Skopje
T2  - Balkan Journal of Medical Genetics
T1  - Ugt1a1 (ta)(n) promoter genotype: diagnostic and population pharmacogenetic marker in Serbia
EP  - 68
IS  - 1
SP  - 59
VL  - 21
DO  - 10.2478/bjmg-2018-0012
ER  - 

@article{
author = "Vuković, M. and Radlović, N. and Leković, Z. and Vucicević, K. and Marić, N. and Kotur, Nikola and Gašić, Vladimir and Ugrin, Milena and Stojiljković, Maja and Dokmanović, Lidija and Zukić, Branka and Pavlović, Sonja",
year = "2018",
abstract = "The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyper-bilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT I Al activity and non-risk GS allele. Also, the UGT1A1 (TA)(n) promoter genotype is recognized as a clinically relevant phannacogenetic marker. The aim of this study was to access diagnostic value of UGTIAI (TA) n promoter genotyping in pediatric GS patients. Correlation of the UGT1A1(TA)(n) genotypes and level of unconjugated bilirubin at diagnosis and after hypocaloric and phenobarbitone tests in these patients was analyzed. Another aim of the study was to assess phannacogenetic potential ofUGT1A1 (TA)(n) variants in Serbia. Fifty-one pediatric GS patients and 100 healthy individuals were genotyped using different methodologies, polymerise chain reaction (PCR) followed by acrylamide electrophoresis, fragment length analysis and/or DNA sequencing. Concordance of the UGT1A1 (TA)(n) promoter risk GS genotypes with GS was found in 80.0% of patients. Therefore, UGT1A1 (TA)(n) promoter genotyping is not a reliable genetic test for GS, but it is useful for differential diagnosis of diseases associated with hyperbilirubinemia. Level of bilimbin in pediatric GS patients at diagnosis wasUGT1A1 (TA)(n) promoter genotype-dependent. We found that the frequency of phannacogenetic relevant UGT1A1 (TA)(n) promoter genotypes was 63.0%, pointing out that UGT1A1 (TA)(n) promoter genoty ping could be recommended for preemptive pharmacogendic testing in Serbia.",
publisher = "Macedonian Acad Sciences Arts, Skopje",
journal = "Balkan Journal of Medical Genetics",
title = "Ugt1a1 (ta)(n) promoter genotype: diagnostic and population pharmacogenetic marker in Serbia",
pages = "68-59",
number = "1",
volume = "21",
doi = "10.2478/bjmg-2018-0012"
}

Vuković, M., Radlović, N., Leković, Z., Vucicević, K., Marić, N., Kotur, N., Gašić, V., Ugrin, M., Stojiljković, M., Dokmanović, L., Zukić, B.,& Pavlović, S.. (2018). Ugt1a1 (ta)(n) promoter genotype: diagnostic and population pharmacogenetic marker in Serbia. in Balkan Journal of Medical Genetics
Macedonian Acad Sciences Arts, Skopje., 21(1), 59-68.
https://doi.org/10.2478/bjmg-2018-0012

Vuković M, Radlović N, Leković Z, Vucicević K, Marić N, Kotur N, Gašić V, Ugrin M, Stojiljković M, Dokmanović L, Zukić B, Pavlović S. Ugt1a1 (ta)(n) promoter genotype: diagnostic and population pharmacogenetic marker in Serbia. in Balkan Journal of Medical Genetics. 2018;21(1):59-68.
doi:10.2478/bjmg-2018-0012 .

Vuković, M., Radlović, N., Leković, Z., Vucicević, K., Marić, N., Kotur, Nikola, Gašić, Vladimir, Ugrin, Milena, Stojiljković, Maja, Dokmanović, Lidija, Zukić, Branka, Pavlović, Sonja, "Ugt1a1 (ta)(n) promoter genotype: diagnostic and population pharmacogenetic marker in Serbia" in Balkan Journal of Medical Genetics, 21, no. 1 (2018):59-68,
https://doi.org/10.2478/bjmg-2018-0012 . .