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Article ; Online: Latent, genetic, and molecular genetic structure of the Wisconsin Card Sorting Test.

Nikolašević, Željka / Bugarski Ignjatović, Vojislava / Kodžopeljić, Jasmina / Sadiković, Selka / Milovanović, Ilija / Vučinić, Nataša / Prinz, Mechthild / Budimlija, Zoran / Smederevac, Snežana

Neuropsychology

2022 Volume 36, Issue 4, Page(s) 314–329

Abstract: Objective: The main goal of this study was to explore the latent structure and genetic basis of cognitive processes involved in the Wisconsin Card Sorting Task (WCST) within phenotypic, behavioral genetic, and molecular genetic research paradigms.: ... ...

Abstract	Objective: The main goal of this study was to explore the latent structure and genetic basis of cognitive processes involved in the Wisconsin Card Sorting Task (WCST) within phenotypic, behavioral genetic, and molecular genetic research paradigms. Method: The sample used in phenotypic and behavioral genetic analyses comprised 468 twins (154 monozygotic and 80 dizygotic twin pairs), while molecular genetic analyses were performed on 404 twins from the same sample. The zygosity of most twin pairs (96.8%) was determined via deoxyribonucleic acid (DNA) analysis of buccal swabs. Trained researchers administered the Wisconsin Card Sorting Test (WCST; Heaton et al., 1993) to the entire sample. Results: A phenotypic factor analysis of WCST variables suggested a single-factor solution. Overall heritability ranged from 0.19 to 0.23 across different measures of the WCST. The presence of a single general genetic factor, which could be identified from different measures of the WCST, indicated the unity of various WCST indicators and the existence of a common basic ability. Performance on the WCST did not reveal significant differences between the three genotypes on catechol- Conclusions: This study highlighted similarities in the phenotypic and genetic structures of the WCST, suggesting one general factor underlying different cognitive functions. The
MeSH term(s)	Brain-Derived Neurotrophic Factor/genetics ; Catechol O-Methyltransferase/genetics ; Genetic Structures ; Humans ; Neuropsychological Tests ; Wisconsin Card Sorting Test
Chemical Substances	Brain-Derived Neurotrophic Factor ; Catechol O-Methyltransferase (EC 2.1.1.6)
Language	English
Publishing date	2022-03-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	1042412-x
ISSN	1931-1559 ; 0894-4105
ISSN (online)	1931-1559
ISSN	0894-4105
DOI	10.1037/neu0000800
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Article: Quantitative behavioral genetic and molecular genetic foundations of the approach and avoidance strategies.

Smederevac, Snežana / Sadiković, Selka / Čolović, Petar / Vučinić, Nataša / Milutinović, Aleksandra / Riemann, Rainer / Corr, Philip J / Prinz, Mechthild / Budimlija, Zoran

Current psychology (New Brunswick, N.J.)

2022 , Page(s) 1–15

Abstract: Two studies examined genetic and environmental influences on traits proposed by the revised Reinforcement Sensitivity Theory (rRST) of personality. Both quantitative and molecular behavioral genetic methods were applied considering the effects ... ...

Abstract	Two studies examined genetic and environmental influences on traits proposed by the revised Reinforcement Sensitivity Theory (rRST) of personality. Both quantitative and molecular behavioral genetic methods were applied considering the effects of
Language	English
Publishing date	2022-01-25
Publishing country	United States
Document type	Journal Article
ZDB-ID	2021598-8
ISSN	1936-4733 ; 1046-1310
ISSN (online)	1936-4733
ISSN	1046-1310
DOI	10.1007/s12144-022-02724-9
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Article ; Online: Interpretation guidelines for multilocus STR forensic profiles from low template DNA samples.

Budimlija, Zoran M / Caragine, Theresa A

Methods in molecular biology (Clifton, N.J.)

2012 Volume 830, Page(s) 199–211

Abstract: Low template (LT) DNA testing is a more sensitive method of PCR DNA typing which tests lower quantities of DNA compared to traditional PCR DNA protocols. Methods applied in this testing involve amplification or postamplification efforts to increase ... ...

Abstract	Low template (LT) DNA testing is a more sensitive method of PCR DNA typing which tests lower quantities of DNA compared to traditional PCR DNA protocols. Methods applied in this testing involve amplification or postamplification efforts to increase detection sensitivity. Establishing the interpretation rules of the results obtained is condition sine qua non for successful incorporation of this valuable technique into forensic casework. Here we describe a successfully optimized and validated approach to interpretation of LT-DNA samples.
MeSH term(s)	Alleles ; DNA/genetics ; Forensic Genetics/methods ; Guidelines as Topic ; Humans ; Microsatellite Repeats/genetics ; Multilocus Sequence Typing/methods ; Templates, Genetic
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2012
Publishing country	United States
Document type	Journal Article
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-61779-461-2_14
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Article: Differences in

Smederevac, Snežana / Delgado-Cruzata, Lissette / Mitrović, Dušanka / Dinić, Bojana M / Bravo, Toni-Ann T / Delgado, Maria / Bugarski Ignjatović, Vojislava / Sadiković, Selka / Milovanović, Ilija / Vučinić, Nataša / Branovački, Bojan / Prinz, Mechthild / Budimlija, Zoran / Kušić-Tišma, Jelena / Nikolašević, Željka

Frontiers in genetics

2023 Volume 13, Page(s) 1067276

Abstract: Epigenetic modifications of the membrane bound catechol-O-methyltransferase ( ...

Abstract	Epigenetic modifications of the membrane bound catechol-O-methyltransferase (
Language	English
Publishing date	2023-01-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2022.1067276
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Article ; Online: Twin study of laboratory-induced aggression.

Dinić, Bojana M / Smederevac, Snežana / Sadiković, Selka / Oljača, Milan / Vučinić, Nataša / Prinz, Mechthild / Budimlija, Zoran

Aggressive behavior

2020 Volume 46, Issue 6, Page(s) 489–497

Abstract: The aim of this study was to explore genetic and environmental contributions to laboratory-induced aggressive behavior. On a sample of 478 adult twins (316 monozygotic), the Competitive Reaction Time Task was used for aggression induction. The results ... ...

Abstract	The aim of this study was to explore genetic and environmental contributions to laboratory-induced aggressive behavior. On a sample of 478 adult twins (316 monozygotic), the Competitive Reaction Time Task was used for aggression induction. The results showed that the initial, basic level of aggression could be explained by both shared (45%) and nonshared environmental factors (55%), while only nonshared environmental factors (100%) had a significant influence on changes in aggression as provocation increased. Genetic factors had no influence on laboratory-induced aggression. The results highlight the importance of environmental factors in shaping situation-specific aggressive responses to provocation.
MeSH term(s)	Adult ; Aggression ; Environment ; Humans ; Mental Disorders ; Twins ; Twins, Monozygotic
Language	English
Publishing date	2020-07-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	189812-7
ISSN	1098-2337 ; 0096-140X
ISSN (online)	1098-2337
ISSN	0096-140X
DOI	10.1002/ab.21916
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Article: Quantitative behavioral genetic and molecular genetic foundations of the approach and avoidance strategies

Smederevac, Sne%zana / Sadikovi'c, Selka / %Colovi'c, Petar / Vu%cini'c, Nata%sa / Milutinovi'c, Aleksandra / Riemann, Rainer / Corr, Philip J. / Prinz, Mechthild / Budimlija, Zoran

Current Psychology

2023 Volume 42, Issue 17, Page(s) 14268–14282

Title translation	Quantitative verhaltensgenetische und molekulargenetische Grundlagen von Annäherungs- und Vermeidungsstrategien
Abstract	Two studies examined genetic and environmental influences on traits proposed by the revised Reinforcement Sensitivity Theory (rRST) of personality. Both quantitative and molecular behavioral genetic methods were applied considering the effects of COMT, DRD2, HTR1A and TPH2 single nucleotide polymorphisms (SNPs). Study one included 274 monozygotic and 154 dizygotic twins for the quantitative behavioral study; and in study two there were 431 twins for the molecular genetic study. The Reinforcement Sensitivity Questionnaire was used to assess basic personality traits defined by the rRST. Univariate biometric modeling suggested that genetic influences accounted for 34-44% of variance of Behavioral Approach System (BAS), Behavioral Inhibition System (BIS) and Fight-Fligh-Freeze System. Molecular genetic analyses proposed the significant main effect of COMT SNP on the BAS and TPH2 SNP on the BIS, and pointed out epistatic effects of COMT x DRD2 on BAS and HTR1A x TPH2 on Fight. Results demonstrated substantial heritability for all rRST constructs, as well as for differences in the molecular genetic basis of both approach-related and avoidance-related dimensions. (c) The Author(s), under exclusive licence to Springer Science+Business Media
Keywords	Behavioral Activation System ; Behavioral Genetics ; Behavioral Inhibition System ; Genetics ; Genetik ; Personality Traits ; Persönlichkeitsmerkmale ; Polymorphism ; Polymorphismus ; Twins ; Verhaltensaktivierungssystem ; Verhaltensgenetik ; Verhaltenshemmungssystem ; Zwillinge
Language	English
Document type	Article
ZDB-ID	2021598-8
ISSN	1936-4733 ; 1046-1310
ISSN (online)	1936-4733
ISSN	1046-1310
DOI	10.1007/s12144-022-02724-9
Database	PSYNDEX

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Article ; Online: Assay Development and Validation of an 8-SNP Multiplex Test to Predict Eye and Skin Coloration.

Mushailov, Vladimir / Rodriguez, Stephanie A / Budimlija, Zoran M / Prinz, Mechthild / Wurmbach, Elisa

Journal of forensic sciences

2015 Volume 60, Issue 4, Page(s) 990–1000

Abstract: Identifying human remains is one of the many responsibilities of forensic scientists. An eye- and skin-color predictor translates genotypic information into phenotypic description. Eight single nucleotide polymorphisms (SNPs) are utilized for this ... ...

Abstract	Identifying human remains is one of the many responsibilities of forensic scientists. An eye- and skin-color predictor translates genotypic information into phenotypic description. Eight single nucleotide polymorphisms (SNPs) are utilized for this predictor, five for eye, and six for skin coloration. Here, we describe the development and validation of an 8-SNP multiplex assay that consists of a multiplex PCR, followed by a multiplexed single-base primer extension reaction generating fluorescently labeled oligonucleotides of distinct length that are detected by multicolor capillary electrophoresis. Validation of this assay included tests for reproducibility, reliability, sensitivity, species specificity, its performance on degraded DNA, and on forensic samples. It can be concluded that the 8-SNP multiplex assay is robust and can be used on challenging samples, including bones, to reliably determine the genotypes to predict eye and skin color of individuals. This information can assist in the identification of human remains and missing persons.
MeSH term(s)	Animals ; DNA Degradation, Necrotic ; Electrophoresis, Capillary ; Eye Color/genetics ; Fluorescence ; Forensic Genetics ; Humans ; Multiplex Polymerase Chain Reaction ; Oligonucleotides/chemistry ; Polymorphism, Single Nucleotide ; Reproducibility of Results ; Skin Pigmentation/genetics ; Species Specificity
Chemical Substances	Oligonucleotides
Language	English
Publishing date	2015-07
Publishing country	United States
Document type	Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Validation Studies
ZDB-ID	219216-0
ISSN	1556-4029 ; 0022-1198
ISSN (online)	1556-4029
ISSN	0022-1198
DOI	10.1111/1556-4029.12758
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Article ; Online: Improved eye- and skin-color prediction based on 8 SNPs.

Hart, Katie L / Kimura, Shey L / Mushailov, Vladimir / Budimlija, Zoran M / Prinz, Mechthild / Wurmbach, Elisa

Croatian medical journal

2013 Volume 54, Issue 3, Page(s) 248–256

Abstract: Aim: To improve the 7-plex system to predict eye and skin color by increasing precision and detailed phenotypic descriptions.: Methods: Analysis of an eighth single nucleotide polymorphism (SNP), rs12896399 (SLC24A4), showed a statistically ... ...

Abstract	Aim: To improve the 7-plex system to predict eye and skin color by increasing precision and detailed phenotypic descriptions. Methods: Analysis of an eighth single nucleotide polymorphism (SNP), rs12896399 (SLC24A4), showed a statistically significant association with human eye color (P=0.007) but a rather poor strength of agreement (κ=0.063). This SNP was added to the 7-plex system (rs12913832 at HERC2, rs1545397 at OCA2, rs16891982 at SLC45A2, rs1426654 at SLC24A5, rs885479 at MC1R, rs6119471 at ASIP, and rs12203592 at IRF4). Further, the instruction guidelines on the interpretation of genotypes were changed to create a new 8-plex system. This was based on the analysis of an 803-sample training set of various populations. The newly developed 8-plex system can predict the eye colors brown, green, and blue, and skin colors light, not dark, and not light. It is superior to the 7-plex system with its additional ability to predict blue eye and light skin color. Results: The 8-plex system was tested on an additional 212 samples, the test set. Analysis showed that the number of positive descriptions for eye colors as being brown, green, or blue increased significantly (P=6.98e-15, z-score: -7.786). The error rate for eye-color prediction was low, at approximately 5%, while the skin color prediction showed no error in the test set (1% in training set). Conclusions: We can conclude that the new 8-plex system for the prediction of eye and skin color substantially enhances its former version.
MeSH term(s)	Agouti Signaling Protein/genetics ; Antigens, Neoplasm/genetics ; Antiporters/genetics ; European Continental Ancestry Group/genetics ; Eye Color/genetics ; Genotype ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Interferon Regulatory Factors/genetics ; Membrane Transport Proteins/genetics ; Polymorphism, Single Nucleotide ; Receptor, Melanocortin, Type 1/genetics ; Skin Pigmentation/genetics ; Ubiquitin-Protein Ligases
Chemical Substances	ASIP protein, human ; Agouti Signaling Protein ; Antigens, Neoplasm ; Antiporters ; Guanine Nucleotide Exchange Factors ; Interferon Regulatory Factors ; Membrane Transport Proteins ; OCA2 protein, human ; Receptor, Melanocortin, Type 1 ; SLC24A4 protein, human ; SLC24A5 protein, human ; SLC45A2 protein, human ; interferon regulatory factor-4 ; HERC2 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2013-06-15
Publishing country	Croatia
Document type	Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	1157623-6
ISSN	1332-8166 ; 0353-9504
ISSN (online)	1332-8166
ISSN	0353-9504
DOI	10.3325/cmj.2013.54.248
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Article ; Online: Verification of eye and skin color predictors in various populations.

Pneuman, Amanda / Budimlija, Zoran M / Caragine, Theresa / Prinz, Mechthild / Wurmbach, Elisa

Legal medicine (Tokyo, Japan)

2012 Volume 14, Issue 2, Page(s) 78–83

Abstract: Validation of testing methods is an essential feature in all scientific endeavors, but it is particularly important in forensics. Due to the sensitive nature of these investigations and the limited sample size it is crucial to validate all employed ... ...

Abstract	Validation of testing methods is an essential feature in all scientific endeavors, but it is particularly important in forensics. Due to the sensitive nature of these investigations and the limited sample size it is crucial to validate all employed procedures. This includes novel forensic phenotypic DNA tests, to learn more of their capabilities and limitations before incorporating them as routine methods. Ideally, validations are performed on large sample sets that mimic real cases. Recently, three phenotypic predictors, two for eye colors and one for skin color have been published (Spichenok et al., 2011; Walsh et al., 2011). These predictors are well-defined by a selection of single nucleotide polymorphisms (SNPs) and unambiguous instructions on how to interpret the genotypes. These standardized approaches have the advantages that they can be applied in diverse laboratories leading to the same outcome and offer the opportunity for validation. For these tests to be used on the characterization of human remains, they should be validated on various populations to perform reliably without prior knowledge of ethnic origin. Here, in this study, these eye and skin color predictors were validated on new sample sets and it could be confirmed that they can be applied in various populations, including African-American, South Asian (dark), East Asian (light), European, and mixed populations. The outputs were either predictive or inconclusive. Predictions were then compared against the actual eye and skin colors of the tested individuals. The error-rates varied; they were low for the predictors that describe the eye and skin color exclusively (non-brown or non-blue and non-white or non-dark, respectively) and higher for the predictor that describes individual eye colors (blue, brown, and intermediate/green), because of uncertainties with the green eye color prediction. Our investigation deepens the insight for these predictors and adds new information.
MeSH term(s)	Eye Color/genetics ; Forensic Genetics/methods ; Genetics, Population ; Humans ; Phenotype ; Polymorphism, Single Nucleotide ; Reproducibility of Results ; Sequence Analysis, DNA ; Skin Pigmentation/genetics
Language	English
Publishing date	2012-03
Publishing country	Ireland
Document type	Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2019555-2
ISSN	1873-4162 ; 1344-6223
ISSN (online)	1873-4162
ISSN	1344-6223
DOI	10.1016/j.legalmed.2011.12.005
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Article ; Online: Validation of a DNA mixture statistics tool incorporating allelic drop-out and drop-in.

Mitchell, Adele A / Tamariz, Jeannie / O'Connell, Kathleen / Ducasse, Nubia / Budimlija, Zoran / Prinz, Mechthild / Caragine, Theresa

Forensic science international. Genetics

2012 Volume 6, Issue 6, Page(s) 749–761

Abstract: DNA mixture analysis is a current topic of discussion in the forensics literature. Of particular interest is how to approach mixtures where allelic drop-out and/or drop-in may have occurred. The Office of Chief Medical Examiner (OCME) of The City of New ... ...

Abstract	DNA mixture analysis is a current topic of discussion in the forensics literature. Of particular interest is how to approach mixtures where allelic drop-out and/or drop-in may have occurred. The Office of Chief Medical Examiner (OCME) of The City of New York has developed and validated the Forensic Statistical Tool (FST), a software tool for likelihood ratio analysis of forensic DNA samples, allowing for allelic drop-out and drop-in. FST can be used for single source samples and for mixtures of DNA from two or three contributors, with or without known contributors. Drop-out and drop-in probabilities were estimated empirically through analysis of over 2000 amplifications of more than 700 mixtures and single source samples. Drop-out rates used by FST are a function of the Identifiler(®) locus, the quantity of template DNA amplified, the number of amplification cycles, the number of contributors to the sample, and the approximate mixture ratio (either unequal or approximately equal). Drop-out rates were estimated separately for heterozygous and homozygous genotypes. Drop-in rates used by FST are a function of number of amplification cycles only. FST was validated using 454 mock evidence samples generated from DNA mixtures and from items handled by one to four persons. For each sample, likelihood ratios (LRs) were computed for each true contributor and for each profile in a database of over 1200 non-contributors. A wide range of LRs for true contributors was obtained, as true contributors' alleles may be labeled at some or all of the tested loci. However, the LRs were consistent with OCME's qualitative assessments of the results. The second set of data was used to evaluate FST LR results when the test sample in the prosecution hypothesis of the LR is not a contributor to the mixture. With this validation, we demonstrate that LRs generated using FST are consistent with, but more informative than, OCME's qualitative sample assessments and that LRs for non-contributors are appropriately assigned.
MeSH term(s)	Alleles ; DNA/analysis ; DNA/genetics ; DNA Fingerprinting/methods ; Genotype ; Humans ; Likelihood Functions ; Microsatellite Repeats ; Real-Time Polymerase Chain Reaction ; Software
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2012-12
Publishing country	Netherlands
Document type	Journal Article ; Validation Studies
ZDB-ID	2493339-9
ISSN	1878-0326 ; 1872-4973
ISSN (online)	1878-0326
ISSN	1872-4973
DOI	10.1016/j.fsigen.2012.08.007
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