TY  - JOUR
AU  - Zecević, Marko
AU  - Kotur, Nikola
AU  - Ristivojević, Bojan
AU  - Gašić, Vladimir
AU  - Skodrić-Trifunović, Vesna
AU  - Stjepanović, Mihailo
AU  - Stevanović, Goran
AU  - Lavadinović, Lidija
AU  - Zukić, Branka
AU  - Pavlović, Sonja
AU  - Stanković, Biljana
PY  - 2022
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1515
AB  - Host genetics, an important contributor to the COVID-19 clinical susceptibility and severity, currently is the focus of multiple genome-wide association studies (GWAS) in populations affected by the pandemic. This is the first study from Serbia that performed a GWAS of COVID-19 outcomes to identify genetic risk markers of disease severity. A group of 128 hospitalized COVID-19 patients from the Serbian population was enrolled in the study. We conducted a GWAS comparing (1) patients with pneumonia (n = 80) against patients without pneumonia (n = 48), and (2) severe (n = 34) against mild disease (n = 48) patients, using a genotyping array followed by imputation of missing genotypes. We have detected a significant signal associated with COVID-19 related pneumonia at locus 13q21.33, with a peak residing upstream of the gene KLHL1 (p = 1.91 x 10(-8)). Our study also replicated a previously reported COVID-19 risk locus at 3p21.31, identifying lead variants in SACM1L and LZTFL1 genes suggestively associated with pneumonia (p = 7.54 x 10(-6)) and severe COVID-19 (p = 6.88 x 10(-7)), respectively. Suggestive association with COVID-19 pneumonia has also been observed at chromosomes 5p15.33 (IRX, NDUFS6, MRPL36, p = 2.81 x 10(-6)), 5q11.2 (ESM1, p = 6.59 x 10(-6)), and 9p23 (TYRP1, LURAP1L, p = 8.69 x 10(-6)). The genes located in or near the risk loci are expressed in neural or lung tissues, and have been previously associated with respiratory diseases such as asthma and COVID-19 or reported as differentially expressed in COVID-19 gene expression profiling studies. Our results revealed novel risk loci for pneumonia and severe COVID-19 disease which could contribute to a better understanding of the COVID-19 host genetics in different populations.
PB  - Frontiers Media Sa, Lausanne
T2  - Frontiers in Genetics
T1  - Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population
VL  - 13
DO  - 10.3389/fgene.2022.911010
ER  - 

@article{
author = "Zecević, Marko and Kotur, Nikola and Ristivojević, Bojan and Gašić, Vladimir and Skodrić-Trifunović, Vesna and Stjepanović, Mihailo and Stevanović, Goran and Lavadinović, Lidija and Zukić, Branka and Pavlović, Sonja and Stanković, Biljana",
year = "2022",
abstract = "Host genetics, an important contributor to the COVID-19 clinical susceptibility and severity, currently is the focus of multiple genome-wide association studies (GWAS) in populations affected by the pandemic. This is the first study from Serbia that performed a GWAS of COVID-19 outcomes to identify genetic risk markers of disease severity. A group of 128 hospitalized COVID-19 patients from the Serbian population was enrolled in the study. We conducted a GWAS comparing (1) patients with pneumonia (n = 80) against patients without pneumonia (n = 48), and (2) severe (n = 34) against mild disease (n = 48) patients, using a genotyping array followed by imputation of missing genotypes. We have detected a significant signal associated with COVID-19 related pneumonia at locus 13q21.33, with a peak residing upstream of the gene KLHL1 (p = 1.91 x 10(-8)). Our study also replicated a previously reported COVID-19 risk locus at 3p21.31, identifying lead variants in SACM1L and LZTFL1 genes suggestively associated with pneumonia (p = 7.54 x 10(-6)) and severe COVID-19 (p = 6.88 x 10(-7)), respectively. Suggestive association with COVID-19 pneumonia has also been observed at chromosomes 5p15.33 (IRX, NDUFS6, MRPL36, p = 2.81 x 10(-6)), 5q11.2 (ESM1, p = 6.59 x 10(-6)), and 9p23 (TYRP1, LURAP1L, p = 8.69 x 10(-6)). The genes located in or near the risk loci are expressed in neural or lung tissues, and have been previously associated with respiratory diseases such as asthma and COVID-19 or reported as differentially expressed in COVID-19 gene expression profiling studies. Our results revealed novel risk loci for pneumonia and severe COVID-19 disease which could contribute to a better understanding of the COVID-19 host genetics in different populations.",
publisher = "Frontiers Media Sa, Lausanne",
journal = "Frontiers in Genetics",
title = "Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population",
volume = "13",
doi = "10.3389/fgene.2022.911010"
}

Zecević, M., Kotur, N., Ristivojević, B., Gašić, V., Skodrić-Trifunović, V., Stjepanović, M., Stevanović, G., Lavadinović, L., Zukić, B., Pavlović, S.,& Stanković, B.. (2022). Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population. in Frontiers in Genetics
Frontiers Media Sa, Lausanne., 13.
https://doi.org/10.3389/fgene.2022.911010

Zecević M, Kotur N, Ristivojević B, Gašić V, Skodrić-Trifunović V, Stjepanović M, Stevanović G, Lavadinović L, Zukić B, Pavlović S, Stanković B. Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population. in Frontiers in Genetics. 2022;13.
doi:10.3389/fgene.2022.911010 .

Zecević, Marko, Kotur, Nikola, Ristivojević, Bojan, Gašić, Vladimir, Skodrić-Trifunović, Vesna, Stjepanović, Mihailo, Stevanović, Goran, Lavadinović, Lidija, Zukić, Branka, Pavlović, Sonja, Stanković, Biljana, "Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population" in Frontiers in Genetics, 13 (2022),
https://doi.org/10.3389/fgene.2022.911010 . .

TY  - JOUR
AU  - Kotur, Nikola
AU  - Skakić, Anita
AU  - Klaassen, Kristel
AU  - Gašić, Vladimir
AU  - Zukić, Branka
AU  - Skodrić-Trifunović, Vesna
AU  - Stjepanović, Mihailo
AU  - Zivković, Zorica
AU  - Ostojić, Olivera
AU  - Stevanović, Goran
AU  - Lavadinović, Lidija
AU  - Pavlović, Sonja
AU  - Stanković, Biljana
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1439
AB  - Background: COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The emerging amount of data indicates that vitamin D, zinc and selenium could be important for clinical presentation of COVID-19. Here, we investigated association of genetic variants related to the altered level and bioavailability of vitamin D, zinc and selenium with clinical severity of COVID-19. Methods: We analyzed variants in genes significant for the status of vitamin D (DHCR7/NADSYN1 rs12785878, GC rs2282679, CYP2R1 rs10741657, and VDR rs2228570), zinc (PPCDC rs2120019) and selenium (DMGDH rs17823744) in 120 Serbian adult and pediatric COVID-19 patients using allelic discrimination. Furthermore, we carried out comparative population genetic analysis among European and other worldwide populations to investigate variation in allelic frequencies of selected variants. Results: Study showed that DHCR7/NADSYN rs12785878 and CYP2R1 rs10741657 variants were associated with severe COVID-19 in adults (p = 0.03, p = 0.017, respectively); carriers of DHCR7/NADSYN TG+GG and CYP2R1 GG genotypes had 0.21 and 5.9 the odds for developing severe disease, OR 0.21 (0.05-0.9) and OR 5.9 (1.4-25.2), respectively. There were no associations between selected genetic variants and disease severity in pediatric patients. Comparative population genetic analysis revealed that Serbian population had the lowest frequency of CYP2R1 rs10741657 G allele compared to other non-Finish Europeans (0.58 compared to 0.69 and 0.66 in Spanish and Italian population, respectively), suggesting that other populations should also investigate the relationship of CYP2R1 variant and the COVID-19 disease course. Conclusion: The results of the study indicated that vitamin D related genetic variants were implicated in severe COVID-19 in adults. This could direct prevention strategies based on population specific nutrigenetic profiles.
PB  - Frontiers Media Sa, Lausanne
T2  - Frontiers in Nutrition
T1  - Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity
VL  - 8
DO  - 10.3389/fnut.2021.689419
ER  - 

@article{
author = "Kotur, Nikola and Skakić, Anita and Klaassen, Kristel and Gašić, Vladimir and Zukić, Branka and Skodrić-Trifunović, Vesna and Stjepanović, Mihailo and Zivković, Zorica and Ostojić, Olivera and Stevanović, Goran and Lavadinović, Lidija and Pavlović, Sonja and Stanković, Biljana",
year = "2021",
abstract = "Background: COVID-19 pandemic has proved to be an unrelenting health threat for more than a year now. The emerging amount of data indicates that vitamin D, zinc and selenium could be important for clinical presentation of COVID-19. Here, we investigated association of genetic variants related to the altered level and bioavailability of vitamin D, zinc and selenium with clinical severity of COVID-19. Methods: We analyzed variants in genes significant for the status of vitamin D (DHCR7/NADSYN1 rs12785878, GC rs2282679, CYP2R1 rs10741657, and VDR rs2228570), zinc (PPCDC rs2120019) and selenium (DMGDH rs17823744) in 120 Serbian adult and pediatric COVID-19 patients using allelic discrimination. Furthermore, we carried out comparative population genetic analysis among European and other worldwide populations to investigate variation in allelic frequencies of selected variants. Results: Study showed that DHCR7/NADSYN rs12785878 and CYP2R1 rs10741657 variants were associated with severe COVID-19 in adults (p = 0.03, p = 0.017, respectively); carriers of DHCR7/NADSYN TG+GG and CYP2R1 GG genotypes had 0.21 and 5.9 the odds for developing severe disease, OR 0.21 (0.05-0.9) and OR 5.9 (1.4-25.2), respectively. There were no associations between selected genetic variants and disease severity in pediatric patients. Comparative population genetic analysis revealed that Serbian population had the lowest frequency of CYP2R1 rs10741657 G allele compared to other non-Finish Europeans (0.58 compared to 0.69 and 0.66 in Spanish and Italian population, respectively), suggesting that other populations should also investigate the relationship of CYP2R1 variant and the COVID-19 disease course. Conclusion: The results of the study indicated that vitamin D related genetic variants were implicated in severe COVID-19 in adults. This could direct prevention strategies based on population specific nutrigenetic profiles.",
publisher = "Frontiers Media Sa, Lausanne",
journal = "Frontiers in Nutrition",
title = "Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity",
volume = "8",
doi = "10.3389/fnut.2021.689419"
}

Kotur, N., Skakić, A., Klaassen, K., Gašić, V., Zukić, B., Skodrić-Trifunović, V., Stjepanović, M., Zivković, Z., Ostojić, O., Stevanović, G., Lavadinović, L., Pavlović, S.,& Stanković, B.. (2021). Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity. in Frontiers in Nutrition
Frontiers Media Sa, Lausanne., 8.
https://doi.org/10.3389/fnut.2021.689419

Kotur N, Skakić A, Klaassen K, Gašić V, Zukić B, Skodrić-Trifunović V, Stjepanović M, Zivković Z, Ostojić O, Stevanović G, Lavadinović L, Pavlović S, Stanković B. Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity. in Frontiers in Nutrition. 2021;8.
doi:10.3389/fnut.2021.689419 .

Kotur, Nikola, Skakić, Anita, Klaassen, Kristel, Gašić, Vladimir, Zukić, Branka, Skodrić-Trifunović, Vesna, Stjepanović, Mihailo, Zivković, Zorica, Ostojić, Olivera, Stevanović, Goran, Lavadinović, Lidija, Pavlović, Sonja, Stanković, Biljana, "Association of Vitamin D, Zinc and Selenium Related Genetic Variants With COVID-19 Disease Severity" in Frontiers in Nutrition, 8 (2021),
https://doi.org/10.3389/fnut.2021.689419 . .

TY  - JOUR
AU  - Đurić, Olivera
AU  - Anđelković, Marina
AU  - Vreca, Misa
AU  - Skakić, Anita
AU  - Pavlović, Sonja
AU  - Novaković, Ivana
AU  - Jovanović, Bojan
AU  - Skodrić-Trifunović, Vesna
AU  - Marković-Denić, Ljiljana
PY  - 2021
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1426
AB  - Introduction: Single nucleotide variants (SNVs) represent important genetic risk factors for susceptibility to posttraumatic sepsis and a potential target for immunotherapy. We aimed to evaluate the association between 8 different SNVs within tumor necrosis factor alpha (TNFA), lymphotoxin alpha (LTA) and Tolllike receptor (TLR2 and TLR4) genes and the risk of posttraumatic sepsis. Methods: Nested case-control study was conducted in the emergency department of the Clinical Centre of Serbia including 228 traumatized patients (44 with sepsis and 184 without sepsis). To compare the results of trauma subjects with the data from the general population, a control group of 101 healthy persons was included in the study. Genotyping of TNFA (rs1800629 and rs361525), LTA (rs909253), TLR2 (rs3804099, rs4696480 and rs3804100), and TLR4 (rs4986790 and rs4986791) was performed for all patients within all three groups using the real-time PCR method. MutationTaster database and in silico software SIFT were used to predict the variant pathogenic effect. Results: Carriage of the G allele of the TNFA rs1800629 gene variant (OR 2.1, 95%CI 1.06-4.16) and T allele-carriage of the TLR4 rs4986791 genetic variant (OR 3.02, 95%CI 1.31-6.57) were associated with significantly higher risk of sepsis in trauma patients when compared to the general population prone to sepsis and traumatized patients without developing a sepsis, respectively. Of these two variants, only variant in TLR4 gene (rs4986791) has been labeled as disease causing by both the MutationTaster database and the in-silico software SIFT, which further supports the role of this variant in various pathologies including sepsis. For the remaining six variants no significant association with the susceptibility to sepsis was detected. Conclusions: Carriage of the G allele of the TNFA rs1800629 gene variant and T allele-carriage of the TLR4 rs4986791 genetic variant confer significant risk of posttraumatic sepsis. TLR4 gene variants (rs4986790 and rs4986791) has been labelled as disease causing.
PB  - Elsevier Sci Ltd, Oxford
T2  - Injury-International Journal of the Care of the Injured
T1  - Genetic variants in TNFA, LTA, TLR2 and TLR4 genes and risk of sepsis in patients with severe trauma: nested case-control study in a level-1 trauma centre in SERBIA
EP  - 425
IS  - 3
SP  - 419
VL  - 52
DO  - 10.1016/j.injury.2020.12.039
ER  - 

@article{
author = "Đurić, Olivera and Anđelković, Marina and Vreca, Misa and Skakić, Anita and Pavlović, Sonja and Novaković, Ivana and Jovanović, Bojan and Skodrić-Trifunović, Vesna and Marković-Denić, Ljiljana",
year = "2021",
abstract = "Introduction: Single nucleotide variants (SNVs) represent important genetic risk factors for susceptibility to posttraumatic sepsis and a potential target for immunotherapy. We aimed to evaluate the association between 8 different SNVs within tumor necrosis factor alpha (TNFA), lymphotoxin alpha (LTA) and Tolllike receptor (TLR2 and TLR4) genes and the risk of posttraumatic sepsis. Methods: Nested case-control study was conducted in the emergency department of the Clinical Centre of Serbia including 228 traumatized patients (44 with sepsis and 184 without sepsis). To compare the results of trauma subjects with the data from the general population, a control group of 101 healthy persons was included in the study. Genotyping of TNFA (rs1800629 and rs361525), LTA (rs909253), TLR2 (rs3804099, rs4696480 and rs3804100), and TLR4 (rs4986790 and rs4986791) was performed for all patients within all three groups using the real-time PCR method. MutationTaster database and in silico software SIFT were used to predict the variant pathogenic effect. Results: Carriage of the G allele of the TNFA rs1800629 gene variant (OR 2.1, 95%CI 1.06-4.16) and T allele-carriage of the TLR4 rs4986791 genetic variant (OR 3.02, 95%CI 1.31-6.57) were associated with significantly higher risk of sepsis in trauma patients when compared to the general population prone to sepsis and traumatized patients without developing a sepsis, respectively. Of these two variants, only variant in TLR4 gene (rs4986791) has been labeled as disease causing by both the MutationTaster database and the in-silico software SIFT, which further supports the role of this variant in various pathologies including sepsis. For the remaining six variants no significant association with the susceptibility to sepsis was detected. Conclusions: Carriage of the G allele of the TNFA rs1800629 gene variant and T allele-carriage of the TLR4 rs4986791 genetic variant confer significant risk of posttraumatic sepsis. TLR4 gene variants (rs4986790 and rs4986791) has been labelled as disease causing.",
publisher = "Elsevier Sci Ltd, Oxford",
journal = "Injury-International Journal of the Care of the Injured",
title = "Genetic variants in TNFA, LTA, TLR2 and TLR4 genes and risk of sepsis in patients with severe trauma: nested case-control study in a level-1 trauma centre in SERBIA",
pages = "425-419",
number = "3",
volume = "52",
doi = "10.1016/j.injury.2020.12.039"
}

Đurić, O., Anđelković, M., Vreca, M., Skakić, A., Pavlović, S., Novaković, I., Jovanović, B., Skodrić-Trifunović, V.,& Marković-Denić, L.. (2021). Genetic variants in TNFA, LTA, TLR2 and TLR4 genes and risk of sepsis in patients with severe trauma: nested case-control study in a level-1 trauma centre in SERBIA. in Injury-International Journal of the Care of the Injured
Elsevier Sci Ltd, Oxford., 52(3), 419-425.
https://doi.org/10.1016/j.injury.2020.12.039

Đurić O, Anđelković M, Vreca M, Skakić A, Pavlović S, Novaković I, Jovanović B, Skodrić-Trifunović V, Marković-Denić L. Genetic variants in TNFA, LTA, TLR2 and TLR4 genes and risk of sepsis in patients with severe trauma: nested case-control study in a level-1 trauma centre in SERBIA. in Injury-International Journal of the Care of the Injured. 2021;52(3):419-425.
doi:10.1016/j.injury.2020.12.039 .

Đurić, Olivera, Anđelković, Marina, Vreca, Misa, Skakić, Anita, Pavlović, Sonja, Novaković, Ivana, Jovanović, Bojan, Skodrić-Trifunović, Vesna, Marković-Denić, Ljiljana, "Genetic variants in TNFA, LTA, TLR2 and TLR4 genes and risk of sepsis in patients with severe trauma: nested case-control study in a level-1 trauma centre in SERBIA" in Injury-International Journal of the Care of the Injured, 52, no. 3 (2021):419-425,
https://doi.org/10.1016/j.injury.2020.12.039 . .

TY  - JOUR
AU  - Buha, Ivana
AU  - Skodrić-Trifunović, Vesna
AU  - Adžić-Vukicević, Tatjana
AU  - Ilić, Aleksandra
AU  - Protić, Ana Blanka
AU  - Stjepanović, Mihailo
AU  - Anđelković, Marina
AU  - Vreca, Misa
AU  - Milin-Lazović, Jelena
AU  - Spasovski, Vesna
AU  - Pavlović, Sonja
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1265
AB  - Introduction: Tuberculosis (TBC) is a contagious chronic respiratory disease which despite the known cause, Mycobacterium tuberculosis (Mtb), and many decades of successful therapy, remains one of the leading global health problems. Immune responses against Mtb infection involve both of types of immunity, but cellular immunity, in which certain cytokines and Th1 cells play a key role, is crucial. A better understanding of the functions of the cytokine network involved in the state and progression of TBC could identify specific molecular markers for monitoring of disease activity as well as therapy outcomes in TBC patients. Methodology: We investigated expression of TNF-alpha, IL-6 and IRAK1 genes using an RT-qPCR technique in peripheral blood mononuclear cells of 33 TBC patients and 10 healthy individuals. Results: Comparison between TBC patients and healthy individuals revealed statistically significant differences for all analyzed genes. The levels of expression of TNF-alpha and IL-6 mRNA were higher, while the level of IRAK1 mRNA was lower in the TBC group compared to controls. Moreover, a strong positive correlation was observed between TNF-alpha and IL-6 gene expression. When clinical parameters were analyzed, increased levels of TNF-alpha mRNA were detected in patients with a longer duration of therapy ( gt 2 months) compared to those with a shorter therapy duration ( lt 2 months), and in patients without anemia. Conclusions: Our results indicate that the inflammatory genes we examined play a crucial role in the pathogenesis of tuberculosis, and that the expression of the TNF-alpha gene could be a marker for monitoring the clinical effect of the ant-tuberculosis drugs during therapy.
PB  - J Infection Developing Countries, Tramaniglio
T2  - Journal of Infection in Developing Countries
T1  - Relevance of TNF-alpha, IL-6 and IRAK1 gene expression for assessing disease severity and therapy effects in tuberculosis patients
EP  - 425
IS  - 5
SP  - 419
VL  - 13
DO  - 10.3855/jidc.10949
ER  - 

@article{
author = "Buha, Ivana and Skodrić-Trifunović, Vesna and Adžić-Vukicević, Tatjana and Ilić, Aleksandra and Protić, Ana Blanka and Stjepanović, Mihailo and Anđelković, Marina and Vreca, Misa and Milin-Lazović, Jelena and Spasovski, Vesna and Pavlović, Sonja",
year = "2019",
abstract = "Introduction: Tuberculosis (TBC) is a contagious chronic respiratory disease which despite the known cause, Mycobacterium tuberculosis (Mtb), and many decades of successful therapy, remains one of the leading global health problems. Immune responses against Mtb infection involve both of types of immunity, but cellular immunity, in which certain cytokines and Th1 cells play a key role, is crucial. A better understanding of the functions of the cytokine network involved in the state and progression of TBC could identify specific molecular markers for monitoring of disease activity as well as therapy outcomes in TBC patients. Methodology: We investigated expression of TNF-alpha, IL-6 and IRAK1 genes using an RT-qPCR technique in peripheral blood mononuclear cells of 33 TBC patients and 10 healthy individuals. Results: Comparison between TBC patients and healthy individuals revealed statistically significant differences for all analyzed genes. The levels of expression of TNF-alpha and IL-6 mRNA were higher, while the level of IRAK1 mRNA was lower in the TBC group compared to controls. Moreover, a strong positive correlation was observed between TNF-alpha and IL-6 gene expression. When clinical parameters were analyzed, increased levels of TNF-alpha mRNA were detected in patients with a longer duration of therapy ( gt 2 months) compared to those with a shorter therapy duration ( lt 2 months), and in patients without anemia. Conclusions: Our results indicate that the inflammatory genes we examined play a crucial role in the pathogenesis of tuberculosis, and that the expression of the TNF-alpha gene could be a marker for monitoring the clinical effect of the ant-tuberculosis drugs during therapy.",
publisher = "J Infection Developing Countries, Tramaniglio",
journal = "Journal of Infection in Developing Countries",
title = "Relevance of TNF-alpha, IL-6 and IRAK1 gene expression for assessing disease severity and therapy effects in tuberculosis patients",
pages = "425-419",
number = "5",
volume = "13",
doi = "10.3855/jidc.10949"
}

Buha, I., Skodrić-Trifunović, V., Adžić-Vukicević, T., Ilić, A., Protić, A. B., Stjepanović, M., Anđelković, M., Vreca, M., Milin-Lazović, J., Spasovski, V.,& Pavlović, S.. (2019). Relevance of TNF-alpha, IL-6 and IRAK1 gene expression for assessing disease severity and therapy effects in tuberculosis patients. in Journal of Infection in Developing Countries
J Infection Developing Countries, Tramaniglio., 13(5), 419-425.
https://doi.org/10.3855/jidc.10949

Buha I, Skodrić-Trifunović V, Adžić-Vukicević T, Ilić A, Protić AB, Stjepanović M, Anđelković M, Vreca M, Milin-Lazović J, Spasovski V, Pavlović S. Relevance of TNF-alpha, IL-6 and IRAK1 gene expression for assessing disease severity and therapy effects in tuberculosis patients. in Journal of Infection in Developing Countries. 2019;13(5):419-425.
doi:10.3855/jidc.10949 .

Buha, Ivana, Skodrić-Trifunović, Vesna, Adžić-Vukicević, Tatjana, Ilić, Aleksandra, Protić, Ana Blanka, Stjepanović, Mihailo, Anđelković, Marina, Vreca, Misa, Milin-Lazović, Jelena, Spasovski, Vesna, Pavlović, Sonja, "Relevance of TNF-alpha, IL-6 and IRAK1 gene expression for assessing disease severity and therapy effects in tuberculosis patients" in Journal of Infection in Developing Countries, 13, no. 5 (2019):419-425,
https://doi.org/10.3855/jidc.10949 . .

TY  - JOUR
AU  - Stjepanović, Mihailo I.
AU  - Mihailović-Vucinić, Violeta
AU  - Spasovski, Vesna
AU  - Milin-Lazović, Jelena
AU  - Skodrić-Trifunović, Vesna
AU  - Stanković, Sanja
AU  - Anđelković, Marina
AU  - Komazec, Jovana
AU  - Momcilović, Ana
AU  - Santrić-Milicević, Milena
AU  - Pavlović, Sonja
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1210
AB  - Introduction: Sarcoidosis is a rare multisystem granulomatous disease with unknown etiology. The interplay of vitamin D deficiency and genetic polymorphisms in genes coding for the proteins relevant for metabolism of vitamin D is an important, but unexplored area. The aim of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in CYP2R1 (rs10741657), CYP27B1 (rs10877012), DBP (rs7041; rs4588), and VDR (rs2228570) genes and sarcoidosis, as well as the association between these SNPs and 25(OH)D levels in sarcoidosis patients. Material and methods: For that purpose we genotyped 86 sarcoidosis patients and 50 healthy controls using the PCR-RFLP method. Results: Subjects carrying the CC genotype of CYP27B1 rs10877012 have 10 times lower odds of suffering from sarcoidosis. Moreover, DBP rs4588 AA genotype was shown to be a susceptibility factor, where carriers of this genotype had eight times higher odds for developing sarcoidosis. In addition, the A allele of the DBP gene (rs4588) was associated with lower levels of 25(OH)D in sarcoidosis patients. Conclusions: These results suggest that patients with vitamin D deficiency should be regularly tested for genetic modifiers that are related to sarcoidosis in order to prevent development of serious forms of sarcoidosis.
PB  - Termedia Publishing House Ltd, Poznan
T2  - Archives of Medical Science
T1  - Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers
EP  - 1146
IS  - 5
SP  - 1138
VL  - 15
DO  - 10.5114/aoms.2018.79682
ER  - 

@article{
author = "Stjepanović, Mihailo I. and Mihailović-Vucinić, Violeta and Spasovski, Vesna and Milin-Lazović, Jelena and Skodrić-Trifunović, Vesna and Stanković, Sanja and Anđelković, Marina and Komazec, Jovana and Momcilović, Ana and Santrić-Milicević, Milena and Pavlović, Sonja",
year = "2019",
abstract = "Introduction: Sarcoidosis is a rare multisystem granulomatous disease with unknown etiology. The interplay of vitamin D deficiency and genetic polymorphisms in genes coding for the proteins relevant for metabolism of vitamin D is an important, but unexplored area. The aim of this study was to investigate the association between single nucleotide polymorphisms (SNPs) in CYP2R1 (rs10741657), CYP27B1 (rs10877012), DBP (rs7041; rs4588), and VDR (rs2228570) genes and sarcoidosis, as well as the association between these SNPs and 25(OH)D levels in sarcoidosis patients. Material and methods: For that purpose we genotyped 86 sarcoidosis patients and 50 healthy controls using the PCR-RFLP method. Results: Subjects carrying the CC genotype of CYP27B1 rs10877012 have 10 times lower odds of suffering from sarcoidosis. Moreover, DBP rs4588 AA genotype was shown to be a susceptibility factor, where carriers of this genotype had eight times higher odds for developing sarcoidosis. In addition, the A allele of the DBP gene (rs4588) was associated with lower levels of 25(OH)D in sarcoidosis patients. Conclusions: These results suggest that patients with vitamin D deficiency should be regularly tested for genetic modifiers that are related to sarcoidosis in order to prevent development of serious forms of sarcoidosis.",
publisher = "Termedia Publishing House Ltd, Poznan",
journal = "Archives of Medical Science",
title = "Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers",
pages = "1146-1138",
number = "5",
volume = "15",
doi = "10.5114/aoms.2018.79682"
}

Stjepanović, M. I., Mihailović-Vucinić, V., Spasovski, V., Milin-Lazović, J., Skodrić-Trifunović, V., Stanković, S., Anđelković, M., Komazec, J., Momcilović, A., Santrić-Milicević, M.,& Pavlović, S.. (2019). Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers. in Archives of Medical Science
Termedia Publishing House Ltd, Poznan., 15(5), 1138-1146.
https://doi.org/10.5114/aoms.2018.79682

Stjepanović MI, Mihailović-Vucinić V, Spasovski V, Milin-Lazović J, Skodrić-Trifunović V, Stanković S, Anđelković M, Komazec J, Momcilović A, Santrić-Milicević M, Pavlović S. Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers. in Archives of Medical Science. 2019;15(5):1138-1146.
doi:10.5114/aoms.2018.79682 .

Stjepanović, Mihailo I., Mihailović-Vucinić, Violeta, Spasovski, Vesna, Milin-Lazović, Jelena, Skodrić-Trifunović, Vesna, Stanković, Sanja, Anđelković, Marina, Komazec, Jovana, Momcilović, Ana, Santrić-Milicević, Milena, Pavlović, Sonja, "Genes and metabolic pathway of sarcoidosis: identification of key players and risk modifiers" in Archives of Medical Science, 15, no. 5 (2019):1138-1146,
https://doi.org/10.5114/aoms.2018.79682 . .

TY  - CONF
AU  - Zeković, Ana
AU  - Vreca, Misa
AU  - Spasovski, Vesna
AU  - Skodrić-Trifunović, Vesna
AU  - Marković-Denić, Ljiljana
AU  - Anđelković, Marina
AU  - Pavlović, Sonja
AU  - Damjanov, Nemanja
PY  - 2019
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1262
PB  - BMJ Publishing Group, London
C3  - Annals of the Rheumatic Diseases
T1  - Relationship between interleukin-23 and gastrointestinal involvement in patients with systemic sclerosis
EP  - 1229
SP  - 1228
VL  - 78
DO  - 10.1136/annrheumdis-2019-eular.2289
ER  - 

@conference{
author = "Zeković, Ana and Vreca, Misa and Spasovski, Vesna and Skodrić-Trifunović, Vesna and Marković-Denić, Ljiljana and Anđelković, Marina and Pavlović, Sonja and Damjanov, Nemanja",
year = "2019",
publisher = "BMJ Publishing Group, London",
journal = "Annals of the Rheumatic Diseases",
title = "Relationship between interleukin-23 and gastrointestinal involvement in patients with systemic sclerosis",
pages = "1229-1228",
volume = "78",
doi = "10.1136/annrheumdis-2019-eular.2289"
}

Zeković, A., Vreca, M., Spasovski, V., Skodrić-Trifunović, V., Marković-Denić, L., Anđelković, M., Pavlović, S.,& Damjanov, N.. (2019). Relationship between interleukin-23 and gastrointestinal involvement in patients with systemic sclerosis. in Annals of the Rheumatic Diseases
BMJ Publishing Group, London., 78, 1228-1229.
https://doi.org/10.1136/annrheumdis-2019-eular.2289

Zeković A, Vreca M, Spasovski V, Skodrić-Trifunović V, Marković-Denić L, Anđelković M, Pavlović S, Damjanov N. Relationship between interleukin-23 and gastrointestinal involvement in patients with systemic sclerosis. in Annals of the Rheumatic Diseases. 2019;78:1228-1229.
doi:10.1136/annrheumdis-2019-eular.2289 .

Zeković, Ana, Vreca, Misa, Spasovski, Vesna, Skodrić-Trifunović, Vesna, Marković-Denić, Ljiljana, Anđelković, Marina, Pavlović, Sonja, Damjanov, Nemanja, "Relationship between interleukin-23 and gastrointestinal involvement in patients with systemic sclerosis" in Annals of the Rheumatic Diseases, 78 (2019):1228-1229,
https://doi.org/10.1136/annrheumdis-2019-eular.2289 . .

TY  - JOUR
AU  - Anđelković, Marina
AU  - Minić, Predrag
AU  - Vreca, Misa
AU  - Stojiljković, Maja
AU  - Skakić, Anita
AU  - Sovtić, Aleksandar
AU  - Rodić, Milan
AU  - Skodrić-Trifunović, Vesna
AU  - Marić, Nina
AU  - Visekruna, Jelena
AU  - Spasovski, Vesna
AU  - Pavlović, Sonja
PY  - 2018
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1146
AB  - Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.
PB  - Public Library Science, San Francisco
T2  - PLoS One
T1  - Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants
IS  - 10
VL  - 13
DO  - 10.1371/journal.pone.0205422
ER  - 

@article{
author = "Anđelković, Marina and Minić, Predrag and Vreca, Misa and Stojiljković, Maja and Skakić, Anita and Sovtić, Aleksandar and Rodić, Milan and Skodrić-Trifunović, Vesna and Marić, Nina and Visekruna, Jelena and Spasovski, Vesna and Pavlović, Sonja",
year = "2018",
abstract = "Primary ciliary dyskinesia (PCD) is a rare inherited autosomal recessive or X-linked disorder that mainly affects lungs. Dysfunction of respiratory cilia causes symptoms such as chronic rhinosinusitis, coughing, rhinitis, conductive hearing loss and recurrent lung infections with bronchiectasis. It is now well known that pathogenic genetic changes lead to ciliary dysfunction. Here we report usage of clinical-exome based NGS approach in order to reveal underlying genetic causes in cohort of 21 patient with diagnosis of PCD. By detecting 18 (12 novel) potentially pathogenic genetic variants, we established the genetic cause of 11 (9 unrelated) patients. Genetic variants were detected in six PCD disease-causing genes, as well as in SPAG16 and SPAG17 genes, that were not detected in PCD patients so far, but were related to some symptoms of PCD. The most frequently mutated gene in our cohort was DNAH5 (27.77%). Identified variants were in homozygous, compound heterozygous and trans-heterozygous state. For detailed characterization of one novel homozygous genetic variant in DNAI1 gene (c. 947_948insG, p. Thr318TyrfsTer11), RT-qPCR and Western Blot analysis were performed. Molecular diagnostic approach applied in this study enables analysis of 29 PCD disease-causing and related genes. It resulted in mutation detection rate of 50% and enabled discovery of twelve novel mutations and pointed two possible novel PCD candidate genes.",
publisher = "Public Library Science, San Francisco",
journal = "PLoS One",
title = "Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants",
number = "10",
volume = "13",
doi = "10.1371/journal.pone.0205422"
}

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.. (2018). Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. in PLoS One
Public Library Science, San Francisco., 13(10).
https://doi.org/10.1371/journal.pone.0205422

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. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. in PLoS One. 2018;13(10).
doi:10.1371/journal.pone.0205422 .

Anđelković, Marina, Minić, Predrag, Vreca, Misa, Stojiljković, Maja, Skakić, Anita, Sovtić, Aleksandar, Rodić, Milan, Skodrić-Trifunović, Vesna, Marić, Nina, Visekruna, Jelena, Spasovski, Vesna, Pavlović, Sonja, "Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants" in PLoS One, 13, no. 10 (2018),
https://doi.org/10.1371/journal.pone.0205422 . .

TY  - JOUR
AU  - Vukmirović, Milica
AU  - Herazo-Maya, Jose D.
AU  - Blackmon, John
AU  - Skodrić-Trifunović, Vesna
AU  - Jovanović, Dragana
AU  - Pavlović, Sonja
AU  - Stojsić, Jelena
AU  - Zeljković, Vesna
AU  - Yan, Xiting
AU  - Homer, Robert
AU  - Stefanović, Branko
AU  - Kaminski, Naftali
PY  - 2017
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1065
AB  - Background: Idiopathic Pulmonary Fibrosis (IPF) is a lethal lung disease of unknown etiology. A major limitation in transcriptomic profiling of lung tissue in IPF has been a dependence on snap-frozen fresh tissues (FF). In this project we sought to determine whether genome scale transcript profiling using RNA Sequencing (RNA-Seq) could be applied to archived Formalin-Fixed Paraffin-Embedded (FFPE) IPF tissues. Results: We isolated total RNA from 7 IPF and 5 control FFPE lung tissues and performed 50 base pair paired-end sequencing on Illumina 2000 HiSeq. TopHat2 was used to map sequencing reads to the human genome. On average similar to 62 million reads (53.4% of similar to 116 million reads) were mapped per sample. 4,131 genes were differentially expressed between IPF and controls (1,920 increased and 2,211 decreased (FDR  lt  0.05). We compared our results to differentially expressed genes calculated from a previously published dataset generated from FF tissues analyzed on Agilent microarrays (GSE47460). The overlap of differentially expressed genes was very high (760 increased and 1,413 decreased, FDR  lt  0.05). Only 92 differentially expressed genes changed in opposite directions. Pathway enrichment analysis performed using MetaCore confirmed numerous IPF relevant genes and pathways including extracellular remodeling, TGF-beta, and WNT. Gene network analysis of MMP7, a highly differentially expressed gene in both datasets, revealed the same canonical pathways and gene network candidates in RNA-Seq and microarray data. For validation by NanoString nCounter (R) we selected 35 genes that had a fold change of 2 in at least one dataset (10 discordant, 10 significantly differentially expressed in one dataset only and 15 concordant genes). High concordance of fold change and FDR was observed for each type of the samples (FF vs FFPE) with both microarrays (r = 0.92) and RNA-Seq (r = 0.90) and the number of discordant genes was reduced to four. Conclusions: Our results demonstrate that RNA sequencing of RNA obtained from archived FFPE lung tissues is feasible. The results obtained from FFPE tissue are highly comparable to FF tissues. The ability to perform RNA-Seq on archived FFPE IPF tissues should greatly enhance the availability of tissue biopsies for research in IPF.
PB  - Biomed Central Ltd, London
T2  - BMC Pulmonary Medicine
T1  - Identification and validation of differentially expressed transcripts by RNA-sequencing of formalin-fixed, paraffin-embedded (FFPE) lung tissue from patients with Idiopathic Pulmonary Fibrosis
VL  - 17
DO  - 10.1186/s12890-016-0356-4
ER  - 

@article{
author = "Vukmirović, Milica and Herazo-Maya, Jose D. and Blackmon, John and Skodrić-Trifunović, Vesna and Jovanović, Dragana and Pavlović, Sonja and Stojsić, Jelena and Zeljković, Vesna and Yan, Xiting and Homer, Robert and Stefanović, Branko and Kaminski, Naftali",
year = "2017",
abstract = "Background: Idiopathic Pulmonary Fibrosis (IPF) is a lethal lung disease of unknown etiology. A major limitation in transcriptomic profiling of lung tissue in IPF has been a dependence on snap-frozen fresh tissues (FF). In this project we sought to determine whether genome scale transcript profiling using RNA Sequencing (RNA-Seq) could be applied to archived Formalin-Fixed Paraffin-Embedded (FFPE) IPF tissues. Results: We isolated total RNA from 7 IPF and 5 control FFPE lung tissues and performed 50 base pair paired-end sequencing on Illumina 2000 HiSeq. TopHat2 was used to map sequencing reads to the human genome. On average similar to 62 million reads (53.4% of similar to 116 million reads) were mapped per sample. 4,131 genes were differentially expressed between IPF and controls (1,920 increased and 2,211 decreased (FDR  lt  0.05). We compared our results to differentially expressed genes calculated from a previously published dataset generated from FF tissues analyzed on Agilent microarrays (GSE47460). The overlap of differentially expressed genes was very high (760 increased and 1,413 decreased, FDR  lt  0.05). Only 92 differentially expressed genes changed in opposite directions. Pathway enrichment analysis performed using MetaCore confirmed numerous IPF relevant genes and pathways including extracellular remodeling, TGF-beta, and WNT. Gene network analysis of MMP7, a highly differentially expressed gene in both datasets, revealed the same canonical pathways and gene network candidates in RNA-Seq and microarray data. For validation by NanoString nCounter (R) we selected 35 genes that had a fold change of 2 in at least one dataset (10 discordant, 10 significantly differentially expressed in one dataset only and 15 concordant genes). High concordance of fold change and FDR was observed for each type of the samples (FF vs FFPE) with both microarrays (r = 0.92) and RNA-Seq (r = 0.90) and the number of discordant genes was reduced to four. Conclusions: Our results demonstrate that RNA sequencing of RNA obtained from archived FFPE lung tissues is feasible. The results obtained from FFPE tissue are highly comparable to FF tissues. The ability to perform RNA-Seq on archived FFPE IPF tissues should greatly enhance the availability of tissue biopsies for research in IPF.",
publisher = "Biomed Central Ltd, London",
journal = "BMC Pulmonary Medicine",
title = "Identification and validation of differentially expressed transcripts by RNA-sequencing of formalin-fixed, paraffin-embedded (FFPE) lung tissue from patients with Idiopathic Pulmonary Fibrosis",
volume = "17",
doi = "10.1186/s12890-016-0356-4"
}

Vukmirović, M., Herazo-Maya, J. D., Blackmon, J., Skodrić-Trifunović, V., Jovanović, D., Pavlović, S., Stojsić, J., Zeljković, V., Yan, X., Homer, R., Stefanović, B.,& Kaminski, N.. (2017). Identification and validation of differentially expressed transcripts by RNA-sequencing of formalin-fixed, paraffin-embedded (FFPE) lung tissue from patients with Idiopathic Pulmonary Fibrosis. in BMC Pulmonary Medicine
Biomed Central Ltd, London., 17.
https://doi.org/10.1186/s12890-016-0356-4

Vukmirović M, Herazo-Maya JD, Blackmon J, Skodrić-Trifunović V, Jovanović D, Pavlović S, Stojsić J, Zeljković V, Yan X, Homer R, Stefanović B, Kaminski N. Identification and validation of differentially expressed transcripts by RNA-sequencing of formalin-fixed, paraffin-embedded (FFPE) lung tissue from patients with Idiopathic Pulmonary Fibrosis. in BMC Pulmonary Medicine. 2017;17.
doi:10.1186/s12890-016-0356-4 .

Vukmirović, Milica, Herazo-Maya, Jose D., Blackmon, John, Skodrić-Trifunović, Vesna, Jovanović, Dragana, Pavlović, Sonja, Stojsić, Jelena, Zeljković, Vesna, Yan, Xiting, Homer, Robert, Stefanović, Branko, Kaminski, Naftali, "Identification and validation of differentially expressed transcripts by RNA-sequencing of formalin-fixed, paraffin-embedded (FFPE) lung tissue from patients with Idiopathic Pulmonary Fibrosis" in BMC Pulmonary Medicine, 17 (2017),
https://doi.org/10.1186/s12890-016-0356-4 . .

TY  - JOUR
AU  - Skodrić-Trifunović, Vesna
AU  - Stjepanović, Mihailo
AU  - Savić, Zivorad
AU  - Ilić, Miroslav
AU  - Kavecan, Ivana
AU  - Privrodski, Jadranka Jovanovic
AU  - Spasovski, Vesna
AU  - Stojiljković, Maja
AU  - Pavlović, Sonja
PY  - 2015
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/874
AB  - Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C gt A).
PB  - Medicinska Naklada, Zagreb
T2  - Croatian Medical Journal
T1  - Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report
EP  - 67
IS  - 1
SP  - 63
VL  - 56
DO  - 10.3325/cmj.2015.56.63
ER  - 

@article{
author = "Skodrić-Trifunović, Vesna and Stjepanović, Mihailo and Savić, Zivorad and Ilić, Miroslav and Kavecan, Ivana and Privrodski, Jadranka Jovanovic and Spasovski, Vesna and Stojiljković, Maja and Pavlović, Sonja",
year = "2015",
abstract = "Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). We present two patients with Gorlin syndrome, one sporadic and one familial. Clinical examination, radiological and CT imaging, and mutation screening of PTCH1 gene were performed. Family members, as well as eleven healthy controls were included in the study. Both patients fulfilled the specific criteria for diagnosis of Gorlin syndrome. Molecular analysis of the first patient showed a novel frameshift mutation in exon 6 of PTCH1gene (c.903delT). Additionally, a somatic frameshift mutation in exon 21 (c.3524delT) along with germline mutation in exon 6 was detected in tumor-derived tissue sample of this patient. Analysis of the second patient, as well as two affected family members, revealed a novel nonsense germline mutation in exon 8 (c.1148 C gt A).",
publisher = "Medicinska Naklada, Zagreb",
journal = "Croatian Medical Journal",
title = "Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report",
pages = "67-63",
number = "1",
volume = "56",
doi = "10.3325/cmj.2015.56.63"
}

Skodrić-Trifunović, V., Stjepanović, M., Savić, Z., Ilić, M., Kavecan, I., Privrodski, J. J., Spasovski, V., Stojiljković, M.,& Pavlović, S.. (2015). Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report. in Croatian Medical Journal
Medicinska Naklada, Zagreb., 56(1), 63-67.
https://doi.org/10.3325/cmj.2015.56.63

Skodrić-Trifunović V, Stjepanović M, Savić Z, Ilić M, Kavecan I, Privrodski JJ, Spasovski V, Stojiljković M, Pavlović S. Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report. in Croatian Medical Journal. 2015;56(1):63-67.
doi:10.3325/cmj.2015.56.63 .

Skodrić-Trifunović, Vesna, Stjepanović, Mihailo, Savić, Zivorad, Ilić, Miroslav, Kavecan, Ivana, Privrodski, Jadranka Jovanovic, Spasovski, Vesna, Stojiljković, Maja, Pavlović, Sonja, "Novel Patched 1 mutations in patients with nevoid basal cell carcinoma syndrome - case report" in Croatian Medical Journal, 56, no. 1 (2015):63-67,
https://doi.org/10.3325/cmj.2015.56.63 . .

TY  - JOUR
AU  - Skodrić-Trifunović, Vesna
AU  - Buha, Ivana
AU  - Jovanović, Dragana
AU  - Vucinić, Violeta
AU  - Stjepanović, Mihailo
AU  - Spasovski, Vesna
AU  - Anđelković, Marina
AU  - Vreca, Misa
AU  - Skakić, Anita
AU  - Gašić, Vladimir
AU  - Pavlović, Sonja
PY  - 2015
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/804
AB  - Tuberculosis (TB) is granulomatous diseases caused by Mycobacterium tuberculosis (MTB). TB is a highly infectious disease that primarily affects the lungs. One-third of human population is infected with MTB, therefore it is of utmost significance to determine the factors that influence the individual susceptibility to the disease. Host genetic factors have been recognized as essential for susceptibility to TB, since only 5% to 10% of infected individuals develop the disease. A number of candidate genes has been intensively studied, the most of which were connected with the function of macrophages, thus participating in immune response. Here we examined the gene variants of VDR (FokI) and NRAMP1 (INT4, D543N, 3'UTR) genes in aim to make the correlation between these genetic factors and risk of TB in Serbian patients. This study included 110 TB patients and 67 healthy controls. Pulmonary TB was diagnosed by clinical symptoms, radiological evidence of TB and bacteriological criteria (Culture-positive/smear-positive). Genotyping was performed using PCR-RFLP method. Our findings revealed significant prevalence of ff genotype and variant allele f of the FokI VDR gene variant in patients compared to control group. Based on the our results the carriers of ff genotype are five times more at risk to tuberculosis than carriers of FF and Ff genotype in our population. The results of analyzed SNPs in NRAMP1 gene showed no statistically significant difference in distribution of the gene variants between patient and control groups. Therefore, we could conclude that the genotype ff of the VDR gene is factor that strongly contribute to susceptibility to TB in Serbian population.
PB  - Društvo genetičara Srbije, Beograd
T2  - Genetika-Belgrade
T1  - Variants in vdr and nramp1 genes as susceptibility factors for tuberculosis in the population of Serbia
EP  - 1028
IS  - 3
SP  - 1021
VL  - 47
DO  - 10.2298/GENSR1503021T
ER  - 

@article{
author = "Skodrić-Trifunović, Vesna and Buha, Ivana and Jovanović, Dragana and Vucinić, Violeta and Stjepanović, Mihailo and Spasovski, Vesna and Anđelković, Marina and Vreca, Misa and Skakić, Anita and Gašić, Vladimir and Pavlović, Sonja",
year = "2015",
abstract = "Tuberculosis (TB) is granulomatous diseases caused by Mycobacterium tuberculosis (MTB). TB is a highly infectious disease that primarily affects the lungs. One-third of human population is infected with MTB, therefore it is of utmost significance to determine the factors that influence the individual susceptibility to the disease. Host genetic factors have been recognized as essential for susceptibility to TB, since only 5% to 10% of infected individuals develop the disease. A number of candidate genes has been intensively studied, the most of which were connected with the function of macrophages, thus participating in immune response. Here we examined the gene variants of VDR (FokI) and NRAMP1 (INT4, D543N, 3'UTR) genes in aim to make the correlation between these genetic factors and risk of TB in Serbian patients. This study included 110 TB patients and 67 healthy controls. Pulmonary TB was diagnosed by clinical symptoms, radiological evidence of TB and bacteriological criteria (Culture-positive/smear-positive). Genotyping was performed using PCR-RFLP method. Our findings revealed significant prevalence of ff genotype and variant allele f of the FokI VDR gene variant in patients compared to control group. Based on the our results the carriers of ff genotype are five times more at risk to tuberculosis than carriers of FF and Ff genotype in our population. The results of analyzed SNPs in NRAMP1 gene showed no statistically significant difference in distribution of the gene variants between patient and control groups. Therefore, we could conclude that the genotype ff of the VDR gene is factor that strongly contribute to susceptibility to TB in Serbian population.",
publisher = "Društvo genetičara Srbije, Beograd",
journal = "Genetika-Belgrade",
title = "Variants in vdr and nramp1 genes as susceptibility factors for tuberculosis in the population of Serbia",
pages = "1028-1021",
number = "3",
volume = "47",
doi = "10.2298/GENSR1503021T"
}

Skodrić-Trifunović, V., Buha, I., Jovanović, D., Vucinić, V., Stjepanović, M., Spasovski, V., Anđelković, M., Vreca, M., Skakić, A., Gašić, V.,& Pavlović, S.. (2015). Variants in vdr and nramp1 genes as susceptibility factors for tuberculosis in the population of Serbia. in Genetika-Belgrade
Društvo genetičara Srbije, Beograd., 47(3), 1021-1028.
https://doi.org/10.2298/GENSR1503021T

Skodrić-Trifunović V, Buha I, Jovanović D, Vucinić V, Stjepanović M, Spasovski V, Anđelković M, Vreca M, Skakić A, Gašić V, Pavlović S. Variants in vdr and nramp1 genes as susceptibility factors for tuberculosis in the population of Serbia. in Genetika-Belgrade. 2015;47(3):1021-1028.
doi:10.2298/GENSR1503021T .

Skodrić-Trifunović, Vesna, Buha, Ivana, Jovanović, Dragana, Vucinić, Violeta, Stjepanović, Mihailo, Spasovski, Vesna, Anđelković, Marina, Vreca, Misa, Skakić, Anita, Gašić, Vladimir, Pavlović, Sonja, "Variants in vdr and nramp1 genes as susceptibility factors for tuberculosis in the population of Serbia" in Genetika-Belgrade, 47, no. 3 (2015):1021-1028,
https://doi.org/10.2298/GENSR1503021T . .