TY  - JOUR
AU  - Jelovac, Marina
AU  - Kotur, Nikola
AU  - Ristivojević, Bojan
AU  - Pavlović, Djordje
AU  - Spasovski, Vesna
AU  - Damjanov, Nemanja
AU  - Pavlović, Sonja
AU  - Zukić, Branka
PY  - 2023
UR  - https://www.mdpi.com/1422-0067/24/10/8538
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1859
AB  - Systemic sclerosis (SSc) is a rare connective tissue disorder with highest morbidity and mortality among rheumatologic diseases. Disease progression is highly heterogeneous between patients, implying a strong need for individualization of therapy. Four pharmacogenetic variants, namely TPMT rs1800460, TPMT rs1142345, MTHFR rs1801133 and SLCO1B1 rs4149056 were tested for association with severe disease outcomes in 102 patients with SSc from Serbia treated either with immunosuppressants azathioprine (AZA) and methotrexate (MTX) or with other types of medications. Genotyping was performed using PCR-RFLP and direct Sanger sequencing. R software was used for statistical analysis and development of polygenic risk score (PRS) model. Association was found between MTHFR rs1801133 and higher risk for elevated systolic pressure in all patients except those prescribed with MTX, and higher risk for kidney insufficiency in patients prescribed with other types of drugs. In patients treated with MTX, variant SLCO1B1 rs4149056 was protective against kidney insufficiency. For patients receiving MTX a trend was shown for having a higher PRS rank and elevated systolic pressure. Our results open a door wide for more extensive research on pharmacogenomics markers in patients with SSc. Altogether, pharmacogenomics markers could predict the outcome of patients with SSc and help in prevention of adverse drug reactions.
T2  - International Journal of Molecular Sciences
T2  - International Journal of Molecular Sciences
T1  - Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?
IS  - 10
SP  - 8538
VL  - 24
DO  - 10.3390/ijms24108538
ER  - 

@article{
author = "Jelovac, Marina and Kotur, Nikola and Ristivojević, Bojan and Pavlović, Djordje and Spasovski, Vesna and Damjanov, Nemanja and Pavlović, Sonja and Zukić, Branka",
year = "2023",
abstract = "Systemic sclerosis (SSc) is a rare connective tissue disorder with highest morbidity and mortality among rheumatologic diseases. Disease progression is highly heterogeneous between patients, implying a strong need for individualization of therapy. Four pharmacogenetic variants, namely TPMT rs1800460, TPMT rs1142345, MTHFR rs1801133 and SLCO1B1 rs4149056 were tested for association with severe disease outcomes in 102 patients with SSc from Serbia treated either with immunosuppressants azathioprine (AZA) and methotrexate (MTX) or with other types of medications. Genotyping was performed using PCR-RFLP and direct Sanger sequencing. R software was used for statistical analysis and development of polygenic risk score (PRS) model. Association was found between MTHFR rs1801133 and higher risk for elevated systolic pressure in all patients except those prescribed with MTX, and higher risk for kidney insufficiency in patients prescribed with other types of drugs. In patients treated with MTX, variant SLCO1B1 rs4149056 was protective against kidney insufficiency. For patients receiving MTX a trend was shown for having a higher PRS rank and elevated systolic pressure. Our results open a door wide for more extensive research on pharmacogenomics markers in patients with SSc. Altogether, pharmacogenomics markers could predict the outcome of patients with SSc and help in prevention of adverse drug reactions.",
journal = "International Journal of Molecular Sciences, International Journal of Molecular Sciences",
title = "Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?",
number = "10",
pages = "8538",
volume = "24",
doi = "10.3390/ijms24108538"
}

Jelovac, M., Kotur, N., Ristivojević, B., Pavlović, D., Spasovski, V., Damjanov, N., Pavlović, S.,& Zukić, B.. (2023). Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?. in International Journal of Molecular Sciences, 24(10), 8538.
https://doi.org/10.3390/ijms24108538

Jelovac M, Kotur N, Ristivojević B, Pavlović D, Spasovski V, Damjanov N, Pavlović S, Zukić B. Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?. in International Journal of Molecular Sciences. 2023;24(10):8538.
doi:10.3390/ijms24108538 .

Jelovac, Marina, Kotur, Nikola, Ristivojević, Bojan, Pavlović, Djordje, Spasovski, Vesna, Damjanov, Nemanja, Pavlović, Sonja, Zukić, Branka, "Can Pharmacogenetic Variants in TPMT, MTHFR and SLCO1B1 Genes Be Used as Potential Markers of Outcome Prediction in Systemic Sclerosis Patients?" in International Journal of Molecular Sciences, 24, no. 10 (2023):8538,
https://doi.org/10.3390/ijms24108538 . .