12 research outputs found
Improved eye- and skin-color prediction based on 8 SNPs
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.
Receive
Differences in MB-COMT DNA methylation in monozygotic twins on phenotypic indicators of impulsivity
Epigenetic modifications of the membrane bound catechol-O-methyltransferase (MB-COMT) gene may affect the enzymatic degradation of dopamine, and consequently, human behavior. This study investigated the association between membrane bound catechol-O-methyltransferase DNA methylation (DNAm) differences in 92 monozygotic (MZ) twins with phenotypic manifestations of cognitive, behavioral, and personality indicators associated with reward-related behaviors and lack of control. We used pyrosequencing to determine DNAm of the regulatory region of membrane bound catechol-O-methyltransferase in saliva DNA. Results of intrapair differences in the percentage of membrane bound catechol-O-methyltransferase DNAm at each of five CpG sites show that there are associations between phenotypic indicators of lack of control and membrane bound catechol-O-methyltransferase DNAm differences on CpG1, CpG2 and CpG4, suggesting the common epigenetic patterns for personality traits, cognitive functions, and risk behaviors
Differences in MB-COMT DNA methylation in monozygotic twins on phenotypic indicators of impulsivity
Epigenetic modifications of the membrane bound catechol-O-methyltransferase (MB-COMT) gene may affect the enzymatic degradation of dopamine, and consequently, human behavior. This study investigated the association between membrane bound catechol-O-methyltransferase DNA methylation (DNAm) differences in 92 monozygotic (MZ) twins with phenotypic manifestations of cognitive, behavioral, and personality indicators associated with reward-related behaviors and lack of control. We used pyrosequencing to determine DNAm of the regulatory region of membrane bound catechol-O-methyltransferase in saliva DNA. Results of intrapair differences in the percentage of membrane bound catechol-O-methyltransferase DNAm at each of five CpG sites show that there are associations between phenotypic indicators of lack of control and membrane bound catechol-O-methyltransferase DNAm differences on CpG1, CpG2 and CpG4, suggesting the common epigenetic patterns for personality traits, cognitive functions, and risk behaviors
POSSIBILITIES OF THE POLYMERASE CHAIN REACTION IN THE HUMAN IDENTIFICATION
Biological traces can be found in various forms. The basic question to deal withduring the biological traces' analysis is the one about their origin, that is, the questionof identity of the person to whom such samples belong. Up to now the most precisemethod of the DNA is the PCR of Polymerase Chain Reaction.The generalassumptions about applying the method for the purpose of human identification aredescribed, namely, the one that is used in the Institute for Forensic Medicine in NoviSad
Hereditary and environmental factors of the Five-Factor Model traits: A cross-cultural study
Smederevac S, Mitrovic D, Sadikovic S, et al. Hereditary and environmental factors of the Five-Factor Model traits: A cross-cultural study. PERSONALITY AND INDIVIDUAL DIFFERENCES. 2020;162: 109995.This study examines cultural differences in genetic and environmental influences on Five-Factor Model (FFM) across Croatian, German and Serbian cultures. Participants were 1021 monozygotic and 722 dizygotic twin pairs and NEO Five-Factor Inventory- NEO-FFI is used to assess FFM personality traits. Results show a similar pattern of genetic and environmental contribution to the variance of all FFM dimensions, indicating that culture has no significant effect on the genetic and environmental variance of personality traits. The best fitted common factor common AE pathway models show that FFM dimensions are accounted for by the common latent factor. Although FFM dimensions clearly share some common sources of variance, the effects of specific genetic and environmental factors are more pronounced than common ones. Different patterns of genetic and environmental correlations across three samples may reflect the way that the synergy of personality traits responds to the specificities of a particular culture, as well as possible subtle differences in item translation, testing conditions, and measurement error
HEREDITARY AND ENVIRONMENTAL FACTORS OF THE FIVE-FACTOR MODEL TRAITS: A CROSS-CULTURAL STUDY
Smederevac, S., Mitrović, D., Sadiković, S., Riemann, R., Bratko, D., Prinz, M. & Budimlija, Z. (2020). Hereditary and environmental factors od the Five-Factor Model traits: A cross-cultural study. Personality and Individual Differences, 162, https://doi.org/10.1016/j.paid.2020.10999
Malignant Tumors and Forensics – Dilemmas and Proposals
Aim To evaluate the effect of genetic instability and degradation
in archived histology samples from cancerous tumors
and to investigate the validity of short tandem repeat
(STR) typing of these samples and its potential effect on
human identification.
Methods Two hundred and twenty eight slides of archival
pathology tissues from 13 different types of malignant tumors
were compared with healthy tissues from the same
individuals. DNA analysis was performed using standard
techniques for forensic STR analysis, PowerPlex®16 and
Identifiler® on 2 distinct sample sets. Genetic instability was
assessed by comparing reference tissues with cancerous
tissues derived from the same individual. Loss of heterozygosity,
a ≥50% reduction in heterozygosity ratio between
healthy and diseased samples, and microsatellite instability,
the presence of an additional allele not present in
reference tissue, were assessed. The quality of profiles obtained
with respect to completeness among the archived
samples and degradation using the 2 platforms were also
compared.
Results Profiles obtained using the Identifiler® system
were generally more complete, but showed 3-fold higher
levels of instability (86%) than those obtained using PowerPlex
® 16 (27%). Instances of genetic instability were distributed
throughout all loci in both multiplex STR systems.
Conclusion After having compared 2 widely used forensic
chemistries, we suggest individual validation of each kit for
use with samples likely to exhibit instability combined with
fixation induced degradation or artifact. A “one size fits all”
approach for interpretation of these samples among commercially
available multiplexes is not recommended
Malignant Tumors and Forensics – Dilemmas and Proposals
Aim To evaluate the effect of genetic instability and degradation
in archived histology samples from cancerous tumors
and to investigate the validity of short tandem repeat
(STR) typing of these samples and its potential effect on
human identification.
Methods Two hundred and twenty eight slides of archival
pathology tissues from 13 different types of malignant tumors
were compared with healthy tissues from the same
individuals. DNA analysis was performed using standard
techniques for forensic STR analysis, PowerPlex®16 and
Identifiler® on 2 distinct sample sets. Genetic instability was
assessed by comparing reference tissues with cancerous
tissues derived from the same individual. Loss of heterozygosity,
a ≥50% reduction in heterozygosity ratio between
healthy and diseased samples, and microsatellite instability,
the presence of an additional allele not present in
reference tissue, were assessed. The quality of profiles obtained
with respect to completeness among the archived
samples and degradation using the 2 platforms were also
compared.
Results Profiles obtained using the Identifiler® system
were generally more complete, but showed 3-fold higher
levels of instability (86%) than those obtained using PowerPlex
® 16 (27%). Instances of genetic instability were distributed
throughout all loci in both multiplex STR systems.
Conclusion After having compared 2 widely used forensic
chemistries, we suggest individual validation of each kit for
use with samples likely to exhibit instability combined with
fixation induced degradation or artifact. A “one size fits all”
approach for interpretation of these samples among commercially
available multiplexes is not recommended
Common genetic basis of the Five Factor Model facets and intelligence: A twin study
Material for the paper: Nikolašević, Ž., Dinić, B. M., Smederevac, S., Sadiković, S., Milovanović, I.,… Zgonjanin Bosić, D. (2021). Common genetic basis of the five factor model facets and intelligence: A twin study. Personality and Individual Differences, 175, 110682. https://doi.org/10.1016/j.paid.2021.11068