Analysis of the structural genome changes as a diagnostic and prognostic parameter of human diseases

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Analysis of the structural genome changes as a diagnostic and prognostic parameter of human diseases (en)
Анализа промена у структури генома као дијагностички и прогностички параметар хуманих болести (sr)
Analiza promena u strukturi genoma kao dijagnostički i prognostički parametar humanih bolesti (sr_RS)
Authors

Publications

Savremeni pristupi u istraživanju molekularne osnove karcinoma prostate

Dobrijević, Zorana; Matijašević-Joković, Suzana; Branković, Ana; Đorđević, Ana; Popović, Milica; Brajušković, Goran

(Belgrade: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, 2022)

TY  - CHAP
AU  - Dobrijević, Zorana
AU  - Matijašević-Joković, Suzana
AU  - Branković, Ana
AU  - Đorđević, Ana
AU  - Popović, Milica
AU  - Brajušković, Goran
PY  - 2022
UR  - http://radar.ibiss.bg.ac.rs/handle/123456789/6565
AB  - U ovom radu preglednog tipa prikazano je desetogodišnje iskustvo istraživačkog tima PRO-
STATSERBIA koji za temu svog istraživanja ima molekularnu osnovu karcinoma prostate (KP). Centar
za humanu molekularnu genetiku Biološkog fakulteta Univerziteta u Beogradu poseduje kolekciju
uzoraka i banku podataka za gotovo 1000 muškaraca sa bolestima prostate (KP i benigna hiperpla-
zija prostate) i preko 350 muškaraca bez znakova bolesti prostate iz populacije Republike Srbije. Naj-
veći broj studija bio je dizajniran kao studije asocijacije odabranih genetičkih varijanti sa rizikom za
razvoj i progresiju KP. U ovim studijama slučajeva i kontola ispitivane su genetičke varijente kako u ge-
nima za proteine i nekodirajuće molekule RNK, tako i u nekodirajućim regionima genoma (tzv. „gen-
skim pustinjama“). Pored studija slučajeva i kontrola, sprovođene su i meta-analize kao i analize
statističkih epistatičkih interakcija analiziranih genetičkih varijanti. Krajnji cilj ovih studija je kreiranje
algoritma za procenu rizika za progresiju bolesti koji bi se koristio u fazi aktivnog praćenja bolesnika
sa ranodijagnostikovanim KP. U poslednje vreme, istraživanja su usmerena na egzozome i njihov ma-
kromolekulski sadržaj (proteine i nekodirajuće molekule RNK) kao potencijalne biološke markere
tečne biopsije KP. Pored toga, biološki makromolekuli na površini egzozoma predstavljaju i ciljane
molekule u novim strategijama lečenja KP.
AB  - This review-type paper will present the ten-year experience of the PROSTATSERBIA research team,
which has the molecular basis of prostate cancer (PCa) as its research topic. The Center for Human Mo-
lecular Genetics of the Faculty of Biology, University of Belgrade has a collection of samples and a
data bank for almost 1000 men with prostate diseases (PCa and benign prostatic hyperplasia) and for
over 350 men without signs of prostate diseases, all from Serbian population. Most of the studies
were designed as studies of association of selected genetic variants with the risk for development
and progression of PCa. In these case-control studies, genetic variants were examined both in genes
for proteins and non-coding RNAs, as well as in non-coding regions of the genome (so-called gene
deserts). In addition to case control studies, both meta-analyses and the analysis of statistical epista-
tic interactions of the analyzed genetic variants were conducted. The main goal of all these studies was
to create an algorithm for risk assessment for disease progression that would be used in the phase of
active monitoring of patients with early diagnosed PCa. Recently, we shifted our research focus on
exosomes and their macromolecular content (proteins and microRNAs) as potential biological mar-
kers of liquid prostate cancer biopsy. In addition, macromolecules at the exosome surface represent
target molecules for new PCa treatment strategies.
PB  - Belgrade: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade
T2  - Trends in molecular biology
T1  - Savremeni pristupi u istraživanju molekularne osnove karcinoma prostate
T1  - Modern approaches in research of the molecular basis of prostate cancer
IS  - 2
SP  - 63
EP  - 74
UR  - https://hdl.handle.net/21.15107/rcub_ibiss_6565
ER  - 
@inbook{
author = "Dobrijević, Zorana and Matijašević-Joković, Suzana and Branković, Ana and Đorđević, Ana and Popović, Milica and Brajušković, Goran",
year = "2022",
abstract = "U ovom radu preglednog tipa prikazano je desetogodišnje iskustvo istraživačkog tima PRO-
STATSERBIA koji za temu svog istraživanja ima molekularnu osnovu karcinoma prostate (KP). Centar
za humanu molekularnu genetiku Biološkog fakulteta Univerziteta u Beogradu poseduje kolekciju
uzoraka i banku podataka za gotovo 1000 muškaraca sa bolestima prostate (KP i benigna hiperpla-
zija prostate) i preko 350 muškaraca bez znakova bolesti prostate iz populacije Republike Srbije. Naj-
veći broj studija bio je dizajniran kao studije asocijacije odabranih genetičkih varijanti sa rizikom za
razvoj i progresiju KP. U ovim studijama slučajeva i kontola ispitivane su genetičke varijente kako u ge-
nima za proteine i nekodirajuće molekule RNK, tako i u nekodirajućim regionima genoma (tzv. „gen-
skim pustinjama“). Pored studija slučajeva i kontrola, sprovođene su i meta-analize kao i analize
statističkih epistatičkih interakcija analiziranih genetičkih varijanti. Krajnji cilj ovih studija je kreiranje
algoritma za procenu rizika za progresiju bolesti koji bi se koristio u fazi aktivnog praćenja bolesnika
sa ranodijagnostikovanim KP. U poslednje vreme, istraživanja su usmerena na egzozome i njihov ma-
kromolekulski sadržaj (proteine i nekodirajuće molekule RNK) kao potencijalne biološke markere
tečne biopsije KP. Pored toga, biološki makromolekuli na površini egzozoma predstavljaju i ciljane
molekule u novim strategijama lečenja KP., This review-type paper will present the ten-year experience of the PROSTATSERBIA research team,
which has the molecular basis of prostate cancer (PCa) as its research topic. The Center for Human Mo-
lecular Genetics of the Faculty of Biology, University of Belgrade has a collection of samples and a
data bank for almost 1000 men with prostate diseases (PCa and benign prostatic hyperplasia) and for
over 350 men without signs of prostate diseases, all from Serbian population. Most of the studies
were designed as studies of association of selected genetic variants with the risk for development
and progression of PCa. In these case-control studies, genetic variants were examined both in genes
for proteins and non-coding RNAs, as well as in non-coding regions of the genome (so-called gene
deserts). In addition to case control studies, both meta-analyses and the analysis of statistical epista-
tic interactions of the analyzed genetic variants were conducted. The main goal of all these studies was
to create an algorithm for risk assessment for disease progression that would be used in the phase of
active monitoring of patients with early diagnosed PCa. Recently, we shifted our research focus on
exosomes and their macromolecular content (proteins and microRNAs) as potential biological mar-
kers of liquid prostate cancer biopsy. In addition, macromolecules at the exosome surface represent
target molecules for new PCa treatment strategies.",
publisher = "Belgrade: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade",
journal = "Trends in molecular biology",
booktitle = "Savremeni pristupi u istraživanju molekularne osnove karcinoma prostate, Modern approaches in research of the molecular basis of prostate cancer",
number = "2",
pages = "63-74",
url = "https://hdl.handle.net/21.15107/rcub_ibiss_6565"
}
Dobrijević, Z., Matijašević-Joković, S., Branković, A., Đorđević, A., Popović, M.,& Brajušković, G.. (2022). Savremeni pristupi u istraživanju molekularne osnove karcinoma prostate. in Trends in molecular biology
Belgrade: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade.(2), 63-74.
https://hdl.handle.net/21.15107/rcub_ibiss_6565
Dobrijević Z, Matijašević-Joković S, Branković A, Đorđević A, Popović M, Brajušković G. Savremeni pristupi u istraživanju molekularne osnove karcinoma prostate. in Trends in molecular biology. 2022;(2):63-74.
https://hdl.handle.net/21.15107/rcub_ibiss_6565 .
Dobrijević, Zorana, Matijašević-Joković, Suzana, Branković, Ana, Đorđević, Ana, Popović, Milica, Brajušković, Goran, "Savremeni pristupi u istraživanju molekularne osnove karcinoma prostate" in Trends in molecular biology, no. 2 (2022):63-74,
https://hdl.handle.net/21.15107/rcub_ibiss_6565 .

Effect of the introgression of Atlantic brown trout, Salmo trutta, into Adriatic trout, Salmo farioides in a stream at the drainage area of the Adriatic Sea basin of Montenegro

Škraba Jurlina, Dubravka; Marić, Ana; Karanović, Jelena; Nikolić, Vera; Brkušanin, Miloš; Kanjuh, Tamara; Mrdak, Danilo; Simonović, Predrag

(2018)

TY  - JOUR
AU  - Škraba Jurlina, Dubravka
AU  - Marić, Ana
AU  - Karanović, Jelena
AU  - Nikolić, Vera
AU  - Brkušanin, Miloš
AU  - Kanjuh, Tamara
AU  - Mrdak, Danilo
AU  - Simonović, Predrag
PY  - 2018
UR  - http://www.aiep.pl/volumes/2010/9_4/txt/txt_04.php
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/3275
AB  - Background. The diversity of wild trout stocks in Montenegro is compromised by insufficiently controlled stocking. Adriatic and Mediterranean areas show a high degree of endemism of the salmonid species, with numerous native Salmo taxa described. The invasive effect of brown trout, Salmo trutta Linnaeus, 1758, of the Atlantic haplogroup on the endemic Adriatic trout, Salmo farioides Karaman, 1938, in the drainage area of the Adriatic Sea basin is lower compared to the effect inflicted by S. trutta has on Salmo labrax Pallas, 1814 of the Danubian haplogroup. The presently reported study was intended to describe the genetic structure of the population of Adriatic trout, Salmo farioides, from the Mrtvica River, a right tributary of the Morača River, Montenegro, in order to get an insight into the spread of non-native strains and their introgression into the native Adriatic trout gene pool. Materials and methods. Trout specimens sampled from the lower section of the Mrtvica River from 2004 to 2007, and from its upper section in the spring of 2014, were analysed for their mtDNA haplotypes. Nuclear DNA markers (microsatellites, LDH-C1* gene) were also included in genetic analyses since mtDNA is inherited only maternally. After statistical analyses, relations between individuals from the upper and lower Mrtvica River were reconstructed. Results. Using both LDH-C1* and seven microsatellite loci with several alleles exclusive to S. trutta, an introgression was detected only in the upper reaches of the Mrtvica River, where only stream-dwelling trout form occurs. In the lower reaches no introgression was detected at all, as revealed by the absence of both the Atlantic mitochondrial haplotype and microsatellite alleles exclusive to S. trutta. Conclusion. The allelic frequency at seven microsatellite loci of Salmo spp. from the two river sections revealed very different population structure, as a consequence of a low rate of gene flow between them. In addition to the physical barrier that prevents Salmo sp. from the lower Mrtvica River to migrate to the upper river section, it seems that the opportunity to mate with the large pool of conspecifics, including lake-dwelling S. farioides (i.e., Salmo cf. dentex), prevents Salmo trutta from surviving at the lower stretch and spread to the rest of the Morača River and Lake Skadar systems.
T2  - Acta Ichthyologica et Piscatoria
T1  - Effect of the introgression of Atlantic brown trout, Salmo trutta, into Adriatic trout, Salmo farioides in a stream at the drainage area of the Adriatic Sea basin of Montenegro
IS  - 4
VL  - 48
DO  - 10.3750/AIEP/02491
SP  - 363
EP  - 372
ER  - 
@article{
author = "Škraba Jurlina, Dubravka and Marić, Ana and Karanović, Jelena and Nikolić, Vera and Brkušanin, Miloš and Kanjuh, Tamara and Mrdak, Danilo and Simonović, Predrag",
year = "2018",
abstract = "Background. The diversity of wild trout stocks in Montenegro is compromised by insufficiently controlled stocking. Adriatic and Mediterranean areas show a high degree of endemism of the salmonid species, with numerous native Salmo taxa described. The invasive effect of brown trout, Salmo trutta Linnaeus, 1758, of the Atlantic haplogroup on the endemic Adriatic trout, Salmo farioides Karaman, 1938, in the drainage area of the Adriatic Sea basin is lower compared to the effect inflicted by S. trutta has on Salmo labrax Pallas, 1814 of the Danubian haplogroup. The presently reported study was intended to describe the genetic structure of the population of Adriatic trout, Salmo farioides, from the Mrtvica River, a right tributary of the Morača River, Montenegro, in order to get an insight into the spread of non-native strains and their introgression into the native Adriatic trout gene pool. Materials and methods. Trout specimens sampled from the lower section of the Mrtvica River from 2004 to 2007, and from its upper section in the spring of 2014, were analysed for their mtDNA haplotypes. Nuclear DNA markers (microsatellites, LDH-C1* gene) were also included in genetic analyses since mtDNA is inherited only maternally. After statistical analyses, relations between individuals from the upper and lower Mrtvica River were reconstructed. Results. Using both LDH-C1* and seven microsatellite loci with several alleles exclusive to S. trutta, an introgression was detected only in the upper reaches of the Mrtvica River, where only stream-dwelling trout form occurs. In the lower reaches no introgression was detected at all, as revealed by the absence of both the Atlantic mitochondrial haplotype and microsatellite alleles exclusive to S. trutta. Conclusion. The allelic frequency at seven microsatellite loci of Salmo spp. from the two river sections revealed very different population structure, as a consequence of a low rate of gene flow between them. In addition to the physical barrier that prevents Salmo sp. from the lower Mrtvica River to migrate to the upper river section, it seems that the opportunity to mate with the large pool of conspecifics, including lake-dwelling S. farioides (i.e., Salmo cf. dentex), prevents Salmo trutta from surviving at the lower stretch and spread to the rest of the Morača River and Lake Skadar systems.",
journal = "Acta Ichthyologica et Piscatoria",
title = "Effect of the introgression of Atlantic brown trout, Salmo trutta, into Adriatic trout, Salmo farioides in a stream at the drainage area of the Adriatic Sea basin of Montenegro",
number = "4",
volume = "48",
doi = "10.3750/AIEP/02491",
pages = "363-372"
}
Škraba Jurlina, D., Marić, A., Karanović, J., Nikolić, V., Brkušanin, M., Kanjuh, T., Mrdak, D.,& Simonović, P.. (2018). Effect of the introgression of Atlantic brown trout, Salmo trutta, into Adriatic trout, Salmo farioides in a stream at the drainage area of the Adriatic Sea basin of Montenegro. in Acta Ichthyologica et Piscatoria, 48(4), 363-372.
https://doi.org/10.3750/AIEP/02491
Škraba Jurlina D, Marić A, Karanović J, Nikolić V, Brkušanin M, Kanjuh T, Mrdak D, Simonović P. Effect of the introgression of Atlantic brown trout, Salmo trutta, into Adriatic trout, Salmo farioides in a stream at the drainage area of the Adriatic Sea basin of Montenegro. in Acta Ichthyologica et Piscatoria. 2018;48(4):363-372.
doi:10.3750/AIEP/02491 .
Škraba Jurlina, Dubravka, Marić, Ana, Karanović, Jelena, Nikolić, Vera, Brkušanin, Miloš, Kanjuh, Tamara, Mrdak, Danilo, Simonović, Predrag, "Effect of the introgression of Atlantic brown trout, Salmo trutta, into Adriatic trout, Salmo farioides in a stream at the drainage area of the Adriatic Sea basin of Montenegro" in Acta Ichthyologica et Piscatoria, 48, no. 4 (2018):363-372,
https://doi.org/10.3750/AIEP/02491 . .
3
1
3

SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis

Brkušanin, Milos; Jeftović-Velkova, Irena; Jovanović, Vladimir; Perić, Stojan; Pešović, Jovan; Brajušković, Goran; Stević, Zorica; Savić-Pavićević, Dušanka

(2018)

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 . .

Effect of childhood general traumas on suicide attempt depends on TPH2 and ADARB1 variants in psychiatric patients

Karanović, Jelena; Ivković, Maja; Jovanović, Vladimir; Šviković, Saša; Pantović-Stefanović, Maja; Brkušanin, Miloš; Damjanović, Aleksandar; Brajušković, Goran; Savić-Pavićević, Dušanka

(2017)

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),
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NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia

Vučić, Nemanja L. J.; Nikolić, Zoran Z.; Vukotić, Vinka D.; Tomović, Saša M.; Vuković, Ivan I.; Kanazir, Selma; Savić-Pavićević, Dušanka L. J.; Brajušković, Goran N.

(2017)

TY  - JOUR
AU  - Vučić, Nemanja L. J.
AU  - Nikolić, Zoran Z.
AU  - Vukotić, Vinka D.
AU  - Tomović, Saša M.
AU  - Vuković, Ivan I.
AU  - Kanazir, Selma
AU  - Savić-Pavićević, Dušanka L. J.
AU  - Brajušković, Goran N.
PY  - 2017
UR  - http://doi.wiley.com/10.1111/and.12817
UR  - https://radar.ibiss.bg.ac.rs/handle/123456789/2746
AB  - Results of recent studies confirmed that oxidative stress negatively affects sperm motility and causes sperm DNA damage. Produced by nitric oxide synthase 3 (NOS3), nitric oxide is considered to be one of the important mediators of oxidative stress in testis tissue. The aim of this study was to assess the possible association of three genetic variants (rs2070744, rs1799983 and intron variant 4a/4b) in NOS3 gene and infertility occurrence in two groups of infertile men (idiopathic azoospermia and oligoasthenozoospermia) and fertile controls. Genotypes for the single-nucleotide genetic variants rs1799983 and rs2070744 were determined by PCR-RFLP, while genotyping of intron 4 variant 4a/4b was performed by gel electrophoresis of PCR products. Statistical analysis was performed by SNPStats software. No significant association between the three genetic variants of the NOS3 gene and infertility risk was determined comparing allele and genotype frequencies among group of patients diagnosed with azoospermia and the control group. Nevertheless, there was a significant positive association between 4a/4b and infertility in the group of males diagnosed with oligoasthenozoospermia, under overdominant genetic model. Our findings suggest that tandem repeat variant within intron 4 of the NOS3 gene is associated with an increased risk of infertility in men diagnosed with idiopathic oligoasthenozoospermia.
T2  - Andrologia
T1  - NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia
IS  - 1
VL  - 50
DO  - 10.1111/and.12817
SP  - e12817
ER  - 
@article{
author = "Vučić, Nemanja L. J. and Nikolić, Zoran Z. and Vukotić, Vinka D. and Tomović, Saša M. and Vuković, Ivan I. and Kanazir, Selma and Savić-Pavićević, Dušanka L. J. and Brajušković, Goran N.",
year = "2017",
abstract = "Results of recent studies confirmed that oxidative stress negatively affects sperm motility and causes sperm DNA damage. Produced by nitric oxide synthase 3 (NOS3), nitric oxide is considered to be one of the important mediators of oxidative stress in testis tissue. The aim of this study was to assess the possible association of three genetic variants (rs2070744, rs1799983 and intron variant 4a/4b) in NOS3 gene and infertility occurrence in two groups of infertile men (idiopathic azoospermia and oligoasthenozoospermia) and fertile controls. Genotypes for the single-nucleotide genetic variants rs1799983 and rs2070744 were determined by PCR-RFLP, while genotyping of intron 4 variant 4a/4b was performed by gel electrophoresis of PCR products. Statistical analysis was performed by SNPStats software. No significant association between the three genetic variants of the NOS3 gene and infertility risk was determined comparing allele and genotype frequencies among group of patients diagnosed with azoospermia and the control group. Nevertheless, there was a significant positive association between 4a/4b and infertility in the group of males diagnosed with oligoasthenozoospermia, under overdominant genetic model. Our findings suggest that tandem repeat variant within intron 4 of the NOS3 gene is associated with an increased risk of infertility in men diagnosed with idiopathic oligoasthenozoospermia.",
journal = "Andrologia",
title = "NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia",
number = "1",
volume = "50",
doi = "10.1111/and.12817",
pages = "e12817"
}
Vučić, N. L. J., Nikolić, Z. Z., Vukotić, V. D., Tomović, S. M., Vuković, I. I., Kanazir, S., Savić-Pavićević, D. L. J.,& Brajušković, G. N.. (2017). NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia. in Andrologia, 50(1), e12817.
https://doi.org/10.1111/and.12817
Vučić NLJ, Nikolić ZZ, Vukotić VD, Tomović SM, Vuković II, Kanazir S, Savić-Pavićević DLJ, Brajušković GN. NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia. in Andrologia. 2017;50(1):e12817.
doi:10.1111/and.12817 .
Vučić, Nemanja L. J., Nikolić, Zoran Z., Vukotić, Vinka D., Tomović, Saša M., Vuković, Ivan I., Kanazir, Selma, Savić-Pavićević, Dušanka L. J., Brajušković, Goran N., "NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia" in Andrologia, 50, no. 1 (2017):e12817,
https://doi.org/10.1111/and.12817 . .
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