TY  - JOUR
AU  - Brkušanin, Milos
AU  - Jeftović-Velkova, Irena
AU  - Jovanović, Vladimir
AU  - Perić, Stojan
AU  - Pešović, Jovan
AU  - Brajušković, Goran
AU  - Stević, Zorica
AU  - Savić-Pavićević, Dušanka
PY  - 2018
UR  - http://www.doiserbia.nb.rs/Article.aspx?ID=0370-81791800069B
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/3452
AB  - Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes. Two ALS susceptibility genes are SMN1, whose functional loss causes spinal muscular atrophy (SMA), and a nearly identical SMN2 gene, which modulates SMA severity. In this study we examined the association of copy number variations (CNVs) of SMN1 and SMN2 genes and two additional genes, SERF1 and NAIP, residing in the same genomic region (i.e. 5q13.2 segmental duplication), with SALS in patients from Serbia. Methods. Multiplex ligation-dependent probe amplification was used to determine CNVs of each gene in a clinically well-characterised group of 153 Serbian SALS patients and 153 controls. Results. Individual association between SMN1, SMN2, SERF1 or NAIP CNVs and SALS susceptibility or survival was not found. Survival curves based on the multivariable Cox regression analysis showed that three SMN1 copies, lower ALS Functional Rating Scale Revised (ALSFRS-R) score at the time of diagnosis, faster decline of the ALSFRS-R score over time, and shorter diagnostic delay result in shorter survival of Serbian SALS patients. Conclusion. Clinical variables might be complemented with the SMN1 copy number to improve prediction of survival in Serbian SALS patients.
T2  - Srpski arhiv za celokupno lekarstvo
T1  - SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis
IS  - 11-12
VL  - 146
DO  - 10.2298/SARH180801069B
SP  - 646
EP  - 652
ER  - 

@article{
author = "Brkušanin, Milos and Jeftović-Velkova, Irena and Jovanović, Vladimir and Perić, Stojan and Pešović, Jovan and Brajušković, Goran and Stević, Zorica and Savić-Pavićević, Dušanka",
year = "2018",
abstract = "Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes. Two ALS susceptibility genes are SMN1, whose functional loss causes spinal muscular atrophy (SMA), and a nearly identical SMN2 gene, which modulates SMA severity. In this study we examined the association of copy number variations (CNVs) of SMN1 and SMN2 genes and two additional genes, SERF1 and NAIP, residing in the same genomic region (i.e. 5q13.2 segmental duplication), with SALS in patients from Serbia. Methods. Multiplex ligation-dependent probe amplification was used to determine CNVs of each gene in a clinically well-characterised group of 153 Serbian SALS patients and 153 controls. Results. Individual association between SMN1, SMN2, SERF1 or NAIP CNVs and SALS susceptibility or survival was not found. Survival curves based on the multivariable Cox regression analysis showed that three SMN1 copies, lower ALS Functional Rating Scale Revised (ALSFRS-R) score at the time of diagnosis, faster decline of the ALSFRS-R score over time, and shorter diagnostic delay result in shorter survival of Serbian SALS patients. Conclusion. Clinical variables might be complemented with the SMN1 copy number to improve prediction of survival in Serbian SALS patients.",
journal = "Srpski arhiv za celokupno lekarstvo",
title = "SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis",
number = "11-12",
volume = "146",
doi = "10.2298/SARH180801069B",
pages = "646-652"
}

Brkušanin, M., Jeftović-Velkova, I., Jovanović, V., Perić, S., Pešović, J., Brajušković, G., Stević, Z.,& Savić-Pavićević, D.. (2018). SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis. in Srpski arhiv za celokupno lekarstvo, 146(11-12), 646-652.
https://doi.org/10.2298/SARH180801069B

Brkušanin M, Jeftović-Velkova I, Jovanović V, Perić S, Pešović J, Brajušković G, Stević Z, Savić-Pavićević D. SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis. in Srpski arhiv za celokupno lekarstvo. 2018;146(11-12):646-652.
doi:10.2298/SARH180801069B .

Brkušanin, Milos, Jeftović-Velkova, Irena, Jovanović, Vladimir, Perić, Stojan, Pešović, Jovan, Brajušković, Goran, Stević, Zorica, Savić-Pavićević, Dušanka, "SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis" in Srpski arhiv za celokupno lekarstvo, 146, no. 11-12 (2018):646-652,
https://doi.org/10.2298/SARH180801069B . .

TY  - JOUR
AU  - Karanović, Jelena
AU  - Ivković, Maja
AU  - Jovanović, Vladimir
AU  - Šviković, Saša
AU  - Pantović-Stefanović, Maja
AU  - Brkušanin, Miloš
AU  - Damjanović, Aleksandar
AU  - Brajušković, Goran
AU  - Savić-Pavićević, Dušanka
PY  - 2017
UR  - http://link.springer.com/10.1007/s00702-017-1677-z
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/2554
AB  - Suicidal behavior has been associated with a deficient serotonin neurotransmission which is likely a consequence of individual genetic architecture, exposure to environmental factors and interactions of those factors. We examined whether the interaction of child abuse, TPH2 (tryptophan hydroxylase 2) variant rs4290270, affecting alternative splicing and editing of TPH2 pre-mRNAs, and ADARB1 (adenosine deaminase acting on RNA B1) variants rs4819035 and rs9983925 may influence the risk for suicide attempt in psychiatric patients. TPH2 rs4290270 was genotyped in 165 suicide attempters and 188 suicide non-attempters diagnosed with major depressive disorder, bipolar disorder and schizophrenia. Genotyping data for ADARB1 variants were taken over from our previous study. Child abuse before the age of 18 years was assessed using the Early Trauma Inventory-Self Report. Generalized linear models and backward selection were applied to identify the main and interacting effects of environmental and genetic factors, including psychiatric diagnoses, patients’ gender and age as covariates. Childhood general traumas were independently associated with suicide attempt. Two-way interaction between TPH2 rs4290270 and general traumas revealed that TT homozygotes with a history of general traumas had an increased risk for suicide attempt. Three-way interaction of general traumas, TPH2 rs4290270 and ADARB1 rs4819035 indicated that the highest predisposition to suicide attempt was observed in individuals who experienced general traumas and were TT homozygote for rs4290270 and TT homozygote for rs4819035. Our findings suggest that the risk for suicide attempt in psychiatric patients exposed to an adverse childhood environment may depend on TPH2 and ADARB1 variants.
T2  - Journal of Neural Transmission
T1  - Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patients
DO  - 10.1007/s00702-017-1677-z
ER  - 

@article{
author = "Karanović, Jelena and Ivković, Maja and Jovanović, Vladimir and Šviković, Saša and Pantović-Stefanović, Maja and Brkušanin, Miloš and Damjanović, Aleksandar and Brajušković, Goran and Savić-Pavićević, Dušanka",
year = "2017",
abstract = "Suicidal behavior has been associated with a deficient serotonin neurotransmission which is likely a consequence of individual genetic architecture, exposure to environmental factors and interactions of those factors. We examined whether the interaction of child abuse, TPH2 (tryptophan hydroxylase 2) variant rs4290270, affecting alternative splicing and editing of TPH2 pre-mRNAs, and ADARB1 (adenosine deaminase acting on RNA B1) variants rs4819035 and rs9983925 may influence the risk for suicide attempt in psychiatric patients. TPH2 rs4290270 was genotyped in 165 suicide attempters and 188 suicide non-attempters diagnosed with major depressive disorder, bipolar disorder and schizophrenia. Genotyping data for ADARB1 variants were taken over from our previous study. Child abuse before the age of 18 years was assessed using the Early Trauma Inventory-Self Report. Generalized linear models and backward selection were applied to identify the main and interacting effects of environmental and genetic factors, including psychiatric diagnoses, patients’ gender and age as covariates. Childhood general traumas were independently associated with suicide attempt. Two-way interaction between TPH2 rs4290270 and general traumas revealed that TT homozygotes with a history of general traumas had an increased risk for suicide attempt. Three-way interaction of general traumas, TPH2 rs4290270 and ADARB1 rs4819035 indicated that the highest predisposition to suicide attempt was observed in individuals who experienced general traumas and were TT homozygote for rs4290270 and TT homozygote for rs4819035. Our findings suggest that the risk for suicide attempt in psychiatric patients exposed to an adverse childhood environment may depend on TPH2 and ADARB1 variants.",
journal = "Journal of Neural Transmission",
title = "Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patients",
doi = "10.1007/s00702-017-1677-z"
}

Karanović, J., Ivković, M., Jovanović, V., Šviković, S., Pantović-Stefanović, M., Brkušanin, M., Damjanović, A., Brajušković, G.,& Savić-Pavićević, D.. (2017). Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patients. in Journal of Neural Transmission.
https://doi.org/10.1007/s00702-017-1677-z

Karanović J, Ivković M, Jovanović V, Šviković S, Pantović-Stefanović M, Brkušanin M, Damjanović A, Brajušković G, Savić-Pavićević D. Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patients. in Journal of Neural Transmission. 2017;.
doi:10.1007/s00702-017-1677-z .

Karanović, Jelena, Ivković, Maja, Jovanović, Vladimir, Šviković, Saša, Pantović-Stefanović, Maja, Brkušanin, Miloš, Damjanović, Aleksandar, Brajušković, Goran, Savić-Pavićević, Dušanka, "Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patients" in Journal of Neural Transmission (2017),
https://doi.org/10.1007/s00702-017-1677-z . .