BEHAVIORAL GENETICS

This manuscript is explicitly theoretical, integrative, and population-genetic. It does not propose molecular causation of autism by any single gene or locus. Instead, it introduces a formal quantitative framework explaining how neurodevelopmental variance-including clinically defined autism-can emerge and persist as a distributional consequence of niche-specific synergistic selection. The objective is to generate testable predictions using existing and near-term archaeogenomic, polygenic, and population-level datasets.

ABSTRACT This study investigates the relationship between Dark Triad personality traits (Machiavellianism, Narcissism, and Psychopathy) and prosocial and antisocial behaviors within the sports context. Data were collected online from 667 athletes aged between 15 and 44 and analyzed using the structural equation modeling approach (PLS-SEM). The Dark Triad Scale was employed to assess personality characteristics, while the Prosocial and Antisocial Behavior in Sport Scale (PABSS) measured behavioral tendencies. Reliability, validity, discriminant validity, and multicollinearity analyses confirmed the adequacy of the measurement model. A structural model was developed to explore the interplay between the Dark Triad traits and prosocial and antisocial behaviors, and its theoretical validity was largely supported. Out of eight proposed hypotheses, six were accepted, indicating a strong overall model fit. Findings revealed that machiavellianism and psychopathy were positively associated with antisocial behavior. Psychopathy fostered antisocial tendencies while decreasing prosocial engagement. Conversely, machiavellianism unexpectedly exhibited a positive correlation with prosocial behavior, suggesting that machiavellian individuals might act prosocially for social approval or personal gain. In contrast, psychopathy was found to enhance antisocial behaviors and suppress prosocial ones due to diminished empathy and a tendency toward aggression. These results indicate that dark personality traits are not exclusively detrimental; rather, their behavioral expressions in sport may vary depending on individual motivations and contextual factors. Overall, this study contributes to the growing literature on personality dynamics in sport psychology by elucidating the complex interactions of dark personality dimensions with moral and social conduct in athletic settings.

Mixing of pigs into new social groups commonly induces aggressive interactions that result in skin lesions on the body of the animals. The relationship between skin lesions and aggressive behavioral interactions in group-housed pigs can be analyzed within the framework of social genetic effects (SGE). This study incorporates the quantification of aggressive interactions between pairs of animals in the modeling of SGE for skin lesions in different regions of the body in growing pigs. The dataset included 792 pigs housed in 59 pens. Skin lesions in the anterior, central and caudal regions of the body were counted 24 h after pig mixing. Animals were video-recorded for 9 h post mixing and trained observers recorded the type and duration of aggressive interactions between pairs of animals. The number of seconds that pairs of pigs spent engaged in reciprocal fights and unilateral attack behaviors were used to parametrize the intensity of social interactions (ISI). Three types of models we...

Transactional models of analysis can examine both moment-to-moment interactions within a dyad and dyadic patterns of influence across time. This study used data from a prospective adoption study to test a transactional model of parental depressive symptoms and mutual negativity between mother and child over time, utilizing contingency analysis of second-by-second behavioral data. To consider both genetic and environmental influences on mutual negativity, depressive symptoms were examined in both adoptive and birth mothers. Adoptive mother depressive symptoms at 9 months increased the likelihood that, at 18 months, children reacted negatively to their mothers' negative behavior, which in turn predicted higher levels of adoptive mother depressive symptoms at 27 months, suggesting that over time, mothers' depressive symptoms influence and are influenced by moment-to-moment mutual negativity with their toddlers. Birth mother depressive symptoms moderated the association between mutual negativity at 18 months and adoptive mother depressive symptoms at 27 months, suggesting a child-driven contribution to maternal depressive symptoms that can be measured by a genetic sensitivity.

Decades of research have shown that abuse and neglect in early childhood increase the probability of unhealthy and psychopathological outcomes in adulthood. However, mechanisms concerning mediator and moderator variables are not completely clear. Drawing from Bowlby's Attachment Theory and evolutionary-developmental models, this work aims to uncover the effects of gene-environment interactions in neurotransmitter systems related to attachment styles. It is hypothesized that early adversity affects the development of decision making, emotion regulation and social bonding behaviors in a lifelong perspective, due to phylogenetically and evolutionary causes. Using the integrative review method, literature on gene-environment interplay and attachment behavior is analysed, particularly experiments on genetic polymorphisms linked to dopamine, serotonin, oxytocin/vasopressin and opioid neurotransmitter systems. Results of experiments so far conducted are not straightforward, due mainly to design limitations and to the multilevel complexity between genetic polymorphisms and social behavior. However, research does provide good evidence on the importance and efficacy of early intervention. In an evidencebased policy perspective, it is claimed that Brazilian federal policies toward children have significantly advanced since 1988, but there is still much to be done. Neuroscientific, genetic and epigenetic studies may help to explain why changing early environments is so important and what are the most effective ways to do it, considering the existing political and institutional constraints and the dynamic reality of policy networks.

Background. Alcohol dependence is unequally distributed across gender (1/3 women versus 2/3 men), though the percentage of women with alcohol dependence seems to be growing. Little is known whether alcohol affects men and women differently. Methods. A first step to assess gender-related differences of alcohol dependence is to compare structural differences as well as neurocognitive function in alcohol-dependent women and men. Results. Though women start to develop an alcohol disorder later in life (Escribano & Parra, 2007), they move more rapidly from abuse to dependence (Walter, 2003) and suffer from the same detrimental effects of alcohol on cognitive, neurologic and internal function as men (Nixon et al., 1995).On a structural level, several studies have reported gender differences in alcohol-related brain atrophy. Mann et al. (1992) found an enlarged size of the ventricles in alcohol-dependent women compared to alcohol dependent men. Other groups found a more pronounced loss of hippocampus volume in women (Agartz et al., 1999), or gender-associated size of the corpus callosum (Hommer et al., 1996). However, another study only found differences of brain volume when comparing alcohol dependent men to healthy controls (Pfefferbaum et al., 2001). Conclusions. Future studies will have to assess whether there are functional correlates of these structural differences between men and women, using e.g. functional magnetic resonance imaging (fMRI) or connectivity analyses. One could address the question why women progress much faster from abuse to dependence, or whether there are profound gender differences in response to alcohol stimuli or suffering a relapse.

Conditioned fear and anxiety-like behaviors have many similarities at the neuroanatomical and pharmacological levels, but their genetic relationship is less well defined. We used short-term selection for contextual fear conditioning (FC) to produce outbred mouse lines with robust genetic differences in FC. The high and low selected lines showed differences in fear learning that were stable across various training parameters and were not secondary to differences in sensitivity to the unconditioned stimulus (foot shock). They also showed a divergence in fear potentiated startle, indicating that differences induced by selection generalized to another measure of fear learning. However, there were no differences in performance in a Pavlovian approach conditioning task or the Morris water maze, indicating no change in general learning ability. The high fear learning line showed greater anxiety-like behavior in the open field and zero maze, confirming a genetic relationship between FC and anxiety-like behavior. Gene expression analysis of the amygdala and hippocampus identified genes that were differentially expressed between the two lines. Quantitative trait locus (QTL) analysis identified several chromosomal regions that may underlie the behavioral response to selection; cis-acting expression QTL were identified in some of these regions, possibly identifying genes that underlie these behavioral QTL. These studies support the validity of a broad genetic construct that includes both learned fear and anxiety and provides a basis for further studies aimed at gene identification.

BACKGROUND: Smoking and alcohol use have been associated with common genetic variants in multiple loci. Rare variants within these loci hold promise in the identification of biological mechanisms in substance use. Exome arrays and genotype imputation can now efficiently genotype rare nonsynonymous and loss of function variants. Such variants are expected to have deleterious functional consequences and to contribute to disease risk. METHODS: We analyzed w250,000 rare variants from 16 independent studies genotyped with exome arrays and augmented this dataset with imputed data from the UK Biobank. Associations were tested for five phenotypes: cigarettes per day, pack-years, smoking initiation, age of smoking initiation, and alcoholic drinks per week. We conducted stratified heritability analyses, single-variant tests, and gene-based burden tests of nonsynonymous/ loss-of-function coding variants. We performed a novel fine-mapping analysis to winnow the number of putative causal variants within associated loci. RESULTS: Meta-analytic sample sizes ranged from 152,348 to 433,216, depending on the phenotype. Rare coding variation explained 1.1% to 2.2% of phenotypic variance, reflecting 11% to 18% of the total single nucleotide polymorphism heritability of these phenotypes. We identified 171 genome-wide associated loci across all phenotypes. Fine mapping identified putative causal variants with double base-pair resolution at 24 of these loci, and between three and 10 variants for 65 loci. Twenty loci contained rare coding variants in the 95% credible intervals. CONCLUSIONS: Rare coding variation significantly contributes to the heritability of smoking and alcohol use. Finemapping genome-wide association study loci identifies specific variants contributing to the biological etiology of substance use behavior.

Glucose-aversion is a heritable trait that evolved in a number of German cockroach (Blattella germanica L.) populations in response to strong selection with glucose-containing insecticide baits. However, in the absence of glucose-containing bait, glucose-averse (GA) cockroaches have lower performance than wild-type (WT) cockroaches in several fitness-determining traits. We allocated 48 caged populations initiated with homozygous GA and WT adults to four dietary treatments consisting of either pure rodent chow, rodent chow mixed to yield a content of either 20% glucose or 20% fructose, or a treatment consisting of choice between the 20% glucose- and the 20% fructose-containing food. After 6 months we found significantly higher frequency of WT individuals in populations restricted to the 20% glucose food, and after 12 months all dietary treatments contained significantly more WT individuals than expected. In accompanying experiments, we found lower survival and longer development time...

The Influence of genetic and environmental factors on liability to depression in Russian teenage sample was investigated. 196 twin pairs aged 13 to 17 (M=15,2) from Moscow, Izhevsk and Bishkek took part in the survey. We have found out that genetic factors had an effect on individual difference in depressiveness among Russian teenagers: more than 50% of variance was explained by additive genetic factors which correspond to international results. The biggest genetic influence was obtained for such scales as negative emotions, negative self esteem and externalization which are the most replicable factor scales in CDI structure worldwide.

BACKGROUND: Smoking and alcohol use have been associated with common genetic variants in multiple loci. Rare variants within these loci hold promise in the identification of biological mechanisms in substance use. Exome arrays and genotype imputation can now efficiently genotype rare nonsynonymous and loss of function variants. Such variants are expected to have deleterious functional consequences and to contribute to disease risk. METHODS: We analyzed w250,000 rare variants from 16 independent studies genotyped with exome arrays and augmented this dataset with imputed data from the UK Biobank. Associations were tested for five phenotypes: cigarettes per day, pack-years, smoking initiation, age of smoking initiation, and alcoholic drinks per week. We conducted stratified heritability analyses, single-variant tests, and gene-based burden tests of nonsynonymous/ loss-of-function coding variants. We performed a novel fine-mapping analysis to winnow the number of putative causal variants within associated loci. RESULTS: Meta-analytic sample sizes ranged from 152,348 to 433,216, depending on the phenotype. Rare coding variation explained 1.1% to 2.2% of phenotypic variance, reflecting 11% to 18% of the total single nucleotide polymorphism heritability of these phenotypes. We identified 171 genome-wide associated loci across all phenotypes. Fine mapping identified putative causal variants with double base-pair resolution at 24 of these loci, and between three and 10 variants for 65 loci. Twenty loci contained rare coding variants in the 95% credible intervals. CONCLUSIONS: Rare coding variation significantly contributes to the heritability of smoking and alcohol use. Finemapping genome-wide association study loci identifies specific variants contributing to the biological etiology of substance use behavior.

Введение. Представленный научный обзор направлен на понимание этиологии пространственных способностей человека. Пространственное мышление – сложный комплекс когнитивных способностей, позволяющих распознавать, преобразовывать и сохранять информацию об объектах, прогнозировать трансформацию взаимодействий между ними под влиянием прочих факторов. Настоящая работа направлена на получение наиболее полного описания пространственных способностей как специфического вида умственной деятельности, лежащего в основе выполнения практических и теоретических задач, решаемых индивидом, с позиции психологии и генетики, чтобы подчеркнуть важность синтеза накопленных экспериментальных данных и психологических основ пространственного интеллекта в общем. Теоретическое обоснование. Представлен обзор результатов генетически информативных исследований пространственных способностей человека. Так как умение ориентироваться в пространстве является неотъемлемой чертой всех живых организмов, пространственные сп...

The oxytocin (OT) hormone pathway is involved in numerous physiological processes, and one of its receptor genes (OXTR) has been implicated in pair bonding behavior in mammalian lineages. This observation is important for understanding social monogamy in primates, which occurs in only a small subset of taxa, including Azara's owl monkey (Aotus azarae). To examine the potential relationship between social monogamy and OXTR variation, we sequenced its 5′ regulatory (4936 bp) and coding (1167 bp) regions in 25 owl monkeys from the Argentinean Gran Chaco, and examined OXTR sequences from 1092 humans from the 1000 Genomes Project. We also assessed interspecific variation of OXTR in 25 primate and rodent species that represent a set of phylogenetically and behaviorally disparate taxa. Our analysis revealed substantial variation in the putative 5′ regulatory region of OXTR, with marked structural differences across primate taxa, particularly for humans and chimpanzees, which exhibited unique patterns of large motifs of dinucleotide A+T repeats upstream of the OXTR 5′ UTR. Moreover, we observed a large number of amino acid substitutions in the OXTR CDS region among New World primate taxa that distinguish them from Old World primates. Furthermore, primate taxa traditionally defined as socially monogamous (e.g., gibbons, owl monkeys, titi monkeys, and saki monkeys) all exhibited different amino acid motifs for their respective OXTR protein coding sequences. These findings support the notion that monogamy has evolved independently in Old World and New World primates, and that it has done so through different molecular mechanisms, not exclusively through the oxytocin pathway.

This paper argues that Richard J. Herrnstein and Charles Murray's The Bell Curve reintroduces into American politics a discourse of eugenics created by its founder, Francis Galton. Using a Visual Studies framework developed by Mieke Bal, Lorraine Daston, and Peter Galison, I show how the bell curve has been used to construct a eugenic visuality-a way of seeing, a practice of looking, a set of values, assumptions, and epistemologies-since Galton employed it to classify his countrymen and introduce the necessity of eugenics. Attention to the historicity of eugenic visualities from Galton to the American eugenic discourse of the early twentieth century and The Bell Curve in 1994 reveals that the directions of British and American eugenics were not the genocide of all groups of inferior people. The eugenic visualities I examine have been used to construct populations and offer suggestions for their management to protect and optimize national health. Thus, while Herrnstein and Murray do not encourage coercive sterilization or contraceptive policies, their suggestions to revoke social welfare benefits and end affirmative action are eugenic because they naturalize as group inferiority conditions created by structural inequality and scientific fantasy and, on that basis, argue for policies that deepen racial inequality.

Previous studies have suggested that γ-aminobutyric acid-B (GABA(B)) receptor agonists effectively reduce ethanol intake. The quantification using real-time polymerase chain reaction of Gabbr1 and Gabbr2 mRNA from the prefrontal cortex, hypothalamus, hippocampus, and striatum in mice exposed to an animal model of the addiction developed in our laboratory was performed to evaluate the involvement of the GABA(B) receptor in ethanol consumption. We used outbred, Swiss mice exposed to a three-bottle free-choice model (water, 5% v/v ethanol, and 10% v/v ethanol) that consisted of four phases: acquisition (AC), withdrawal (W), reexposure (RE), and quinine-adulteration (AD). Based on individual ethanol intake, the mice were classified into three groups: "addicted" (A group; preference for ethanol and persistent consumption during all phases), "heavy" (H group; preference for ethanol and a reduction in ethanol intake in the AD phase compared to AC phase), and "light...

Background: Despite extensive efforts, the causes of autism remain unknown. Advancing paternal age has been associated with various neurodevelopmental disorders. We aim to investigate three unresolved questions: (a) What is the association between paternal age and autism spectrum disorders (ASD)?; (b) Does paternal age moderate the genetic and environmental etiological factors for ASD? (c) Does paternal age affect normal variation in autistic-like traits? Methods: Two nationally representative twin studies from Sweden (n = 11, 122, assessed at age 9 or 12) and the UK (n = 13, 524, assessed at age 9) were used. Categorical and continuous measures of ASD, autistic-like traits and autistic similarity were calculated and compared over paternal age categories. Results: Both cohorts showed a strong association between paternal age and the risk for ASD. A U-shaped risk association could be discerned since the offspring of both the youngest and oldest fathers showed an elevation in the risk for ASD. Autistic similarity increased with advancing paternal age in both monozygotic and dizygotic twins. Both cohorts showed significantly higher autistic-like traits in the offspring of the youngest and oldest fathers. Conclusions: Phenomena associated with paternal age are clearly involved in the trajectories leading to autistic-like traits and ASD. Mechanisms influencing the trajectories might differ between older and younger fathers. Molecular genetic studies are now needed in order to further understand the association between paternal age and ASD, as well as normal variation in social, language, and repetitive behaviors in the general population.

A genome scan of ∼12-cM initial resolution was done on 50 of a set of 51 carefully ascertained unilineal multiplex families segregating the bipolar affective disorder phenotype. In addition to standard multipoint linkage analysis methods, a simultaneous-search algorithm was applied in an attempt to surmount the problem of genetic heterogeneity. The results revealed no linkage across the genome. The results exclude monogenic models and make it unlikely that two genes account for the disease in this sample. These results support the conclusion that at least several hundred kindreds will be required in order to establish linkage of susceptibility loci to bipolar disorder in heterogeneous populations.

Although lifespans have increased for adults with Down syndrome, few studies have examined changes in residential arrangements across adulthood. Using datasets from sibling (Phase I) and parent (Phase II) reporters of individuals with Down syndrome, this study examined: percentages of adults who lived with or away from parents during their 20s, 30s, and 40s-50s; changes over adulthood in offspring and parental functioning; and predictors of leaving the parental home. In these secondary data analyses, we examined 250 adults with Down syndrome in Phase I and 703 adults with Down syndrome in Phase II. In both phases, gradual declines in living with parents occurred from the 20s to the 30s, more rapid declines in the 40s-50s. When adults with Down syndrome were aged 40-59, both adults and parents showed health and functional declines. Older ages of adults with Down syndrome and, in the 40s-50s group, presumed parental functional declines both predicted adults with Down syndrome leaving their parents' homes. Practical, policy, and research implications are discussed.

Much of the diversity of herbivorous insects stems from the adaptive divergence of populations onto different host plants. This often involves the evolution of specialized patterns of host acceptance that in turn lead to assortative mating for insects that mate exclusively on their hosts. Here, we explore the genetic architecture of feeding behavior in a herbivorous insect that has become a model for the study of incipient speciation, the pea aphid (Acyrthosiphon pisum). We use crosses between individuals specialized to either alfalfa or red clover in order to perform both a biometrical analysis and a quantitative trait locus (QTL) analysis of key feeding behaviors. For each character in each environment, Castle-Wright's estimator for the number of effective factors segregating ranged from 0.11 to 2.54. Similarly, between 0 and 3 QTLs were detected. In one case, a single QTL explained over 50% of the variance in the F2, suggesting that at least one gene (or a complex of tightly linked genes) has a major effect on feeding behavior in the pea aphid. However, the identified QTL explain only 23-73% of the genetic variance for these characters thus additional genes of minor effect are also involved. We found a variety of modes of gene action, including several cases of non-additive gene action. Our results suggest that feeding behavior in pea aphids is neither simple nor highly polygenic. The oligogenetic basis of variation in feeding behavior may facilitate host shifts, providing one explanation for the frequent divergence and speciation of herbivorous insects.

Previous studies have suggested that γ-aminobutyric acid-B (GABA(B)) receptor agonists effectively reduce ethanol intake. The quantification using real-time polymerase chain reaction of Gabbr1 and Gabbr2 mRNA from the prefrontal cortex, hypothalamus, hippocampus, and striatum in mice exposed to an animal model of the addiction developed in our laboratory was performed to evaluate the involvement of the GABA(B) receptor in ethanol consumption. We used outbred, Swiss mice exposed to a three-bottle free-choice model (water, 5% v/v ethanol, and 10% v/v ethanol) that consisted of four phases: acquisition (AC), withdrawal (W), reexposure (RE), and quinine-adulteration (AD). Based on individual ethanol intake, the mice were classified into three groups: "addicted" (A group; preference for ethanol and persistent consumption during all phases), "heavy" (H group; preference for ethanol and a reduction in ethanol intake in the AD phase compared to AC phase), and "light...

The arginine vasopressin V1a receptor gene (AVPR1A) has been implicated in increased partner preference and pair bonding behavior in mammalian lineages. This observation is of considerable importance for studies of social monogamy, which only appears in a small subset of primate taxa, including the Argentinean owl monkey (Aotus azarai). Thus, to investigate the possible influence of AVPR1A on the evolution of social behavior in owl monkeys, we sequenced this locus in a wild population from the Gran Chaco. We also assessed the interspecific variation of AVPR1A in platyrrhine species that represent a set of phylogenetically and behaviorally disparate taxa. The resulting data revealed A. azarai to have a unique genic structure for AVPR1A that varies in coding sequence and microsatellite repeat content relative to other primate and mammalian species. Specifically, one repetitive region that has been the focus in studies of human AVPR1A diversity, ''RS3,'' is completely absent in A. azarai and all other platyrrhines examined. This finding suggests that, if AVPR1A modulates behavior in owl monkeys and other neotropical primates, it does so independent of this region. These observations have also provided clues about the process by which the range of social behavior in the Order Primates evolved through lineage-specific neurogenetic variation.

BackgroundPopulation‐based and family studies showed that impulsive‐aggression predicts suicidality; however, the underlying etiological nature of this association is poorly understood. The objective was to determine the contribution of genes and environment to the association between childhood impulsive‐aggression and serious suicidal ideation/attempt in young adulthood.MethodsN = 862 twins (435 families) from the Quebec Newborn Twin Study were followed up from birth to 20 years. Repeated measures of teacher‐assessed impulsive‐aggression were modeled using a genetically informed latent growth model including intercept and slope parameters reflecting individual differences in the baseline level (age 6 years) and in the change (increase/decrease) of impulsive‐aggression during childhood (6 to 12 years), respectively. Lifetime suicidality (serious suicidal ideation/attempt) was self‐reported at 20 years. Associations of impulsive‐aggression intercept and slope with suicidality were de...

SUMMARYAnimals with complex nervous systems demand sleep for memory consolidation and synaptic remodeling. Here we show that though theCaenorhabditis elegansnervous system has a limited number of neurons, sleep is necessary for both processes. In addition, it is unclear in any system if sleep collaborates with experience to alter synapses between specific neurons and whether this ultimately affects behavior.C. elegansneurons have defined connections and well-described contributions to behavior. We show that spaced odor-training and post-training sleep induce long-term memory. Memory consolidation, but not acquisition, requires a pair of interneurons, the AIYs, which play a role in odor-seeking behavior. In worms that consolidate memory, both sleep and odor conditioning are required to diminish inhibitory synaptic connections between the AWC chemosensory neurons and the AIYs. Thus, we demonstrate in a living organism that sleep is required for events immediately after training that d...

This study examined whether universality of the 5-factor model (FFM) of personality operationalized by the Revised NEO Personality Inventory is due to genetic influences that are invariant across diverse nations. Factor analyses were conducted on matrices of phenotypic, genetic, and environmental corre-lations estimated in a sample of 1,209 monozygotic and 701 dizygotic twin pairs from Canada, Germany, and Japan. Five genetic and environmental factors were extracted for each sample. High congruence coefficients were observed when phenotypic, genetic, and environmental factors were compared in each sample as well as when each factor was compared across samples. These results suggest that the FFM has a solid biological basis and may represent a common heritage of the human species.

Why does decision making differ among individuals? People sometimes make seemingly inconsistent decisions with lower expected (monetary) utility even when objective information of probabilities and reward are provided. It is noteworthy, however, that a certain proportion of people do not provide anomalous responses, choosing the alternatives with higher expected utility, thus appearing to be more "rational." We investigated the genetic and environmental influences on these types of individual differences in decision making using a classical Allais problem task. Participants were 1,199 Japanese adult twins aged 20-47. Univariate genetic analysis revealed that approximately a third of the Allais problem response variance was explained by genetic factors and the rest by environmental factors unique to individuals and measurement error. The environmental factor shared between families did not contribute to the variance. Subsequent multivariate genetic analysis clarified that d...

Human beings are an incredibly social species and along with eusocial insects engage in the largest cooperative living groups in the planet's history. Twin and family studies suggest that uniquely human characteristics such as empathy, altruism, sense of equity, love, trust, music, economic behavior, and even politics are partially hardwired. The leap from twin studies to identifying specific genes engaging the social brain has occurred in the past decade, aided by deep insights accumulated about social behavior in lower mammals. Remarkably, genes such as the arginine vasopressin receptor and the oxytocin receptor contribute to social behavior in a broad range of species from voles to man. Other polymorphic genes constituting the ''usual suspects''-i.e., those encoding for dopamine reward pathways, serotonergic emotional regulation, or sex hormones-further enable elaborate social behaviors.

Введение. Представленный научный обзор направлен на понимание этиологии пространственных способностей человека. Пространственное мышление – сложный комплекс когнитивных способностей, позволяющих распознавать, преобразовывать и сохранять информацию об объектах, прогнозировать трансформацию взаимодействий между ними под влиянием прочих факторов. Настоящая работа направлена на получение наиболее полного описания пространственных способностей как специфического вида умственной деятельности, лежащего в основе выполнения практических и теоретических задач, решаемых индивидом, с позиции психологии и генетики, чтобы подчеркнуть важность синтеза накопленных экспериментальных данных и психологических основ пространственного интеллекта в общем. Теоретическое обоснование. Представлен обзор результатов генетически информативных исследований пространственных способностей человека. Так как умение ориентироваться в пространстве является неотъемлемой чертой всех живых организмов, пространственные сп...

Epidemiological and interventional research has highlighted sleep as a potentially modifiable risk factor associated with poor physical and mental health. Emerging evidence from (behavioral) genetic research also shows that sleep characteristics are under strong genetic control. With this study we aimed to metaanalyze the literature in this area to quantify the heritability of sleep duration and sleep quality in the general population. We conducted a systematic literature search in five online databases on January 24th 2020. Two authors independently screened 5644 abstracts, and 160 complete articles for the inclusion criteria of twin studies from the general population reporting heritability statistics on sleep duration and/or quality, and written in English. We ultimately included 23 papers (19 independent samples: 45,328 twins between 6 mo and 88 y) for sleep duration, and 13 papers (10 independent samples: 39,020 twins between 16 and 95 y) for sleep quality. Collectively, we showed that 46% of the variability in sleep duration and 44% of the variability in sleep quality is genetically determined. The remaining variation in the sleep characteristics can mostly be attributed to the unique environment the twins experience, although the shared environment seemed to play a role for the variability of childhood sleep duration. Meta-analyzed heritability estimates for sleep duration, however, varied substantially with age (17% infancy, 20e52% childhood, 69% adolescence and 42e45% adulthood) and reporter (8% parent-report, 38 e52% self-report). Heritability estimates for actigraphic and Polysomnography (PSG)-estimated sleep were based on few small samples, warranting more research. Our findings highlight the importance of considering genetic influences when aiming to understand the underlying mechanisms contributing to the trajectories of sleep patterns across the lifespan.

Background and Objectives: Subcortical grey matter structures play essential roles in cognitive, affective, social, and motoric functions in humans. Their volume changes with age, and decreased volumes have been linked with many neuropsychiatric disorders. The aim of our study was to examine the heritability of six subcortical brain volumes (the amygdala, caudate nucleus, pallidum, putamen, thalamus, and nucleus accumbens) and four general brain volumes (the total intra-cranial volume and the grey matter, white matter, and cerebrospinal fluid (CSF) volume) in twins. Materials and Methods: A total of 118 healthy adult twins from the Hungarian Twin Registry (86 monozygotic and 32 dizygotic; median age 50 ± 27 years) underwent brain magnetic resonance imaging. Two automated volumetry pipelines, Computational Anatomy Toolbox 12 (CAT12) and volBrain, were used to calculate the subcortical and general brain volumes from three-dimensional T1-weighted images. Age- and sex-adjusted monozygot...

Введение. В статье представлен обзор современных исследований природы индивидуальных различий структурных характеристик мозга. В рамках концепции эндофенотипов (промежуточного звена между геном и комплексным фенотипическим признаком) рассматривается роль индивидуальных различий в структурных характеристиках мозга в формировании индивидуальных различий в психологических признаках. Теоретическое обоснование. В настоящей работе анализируется роль генетических и средовых факторов в формировании индивидуальных различий в структурных характеристиках мозга, измеренных с помощью методов магнитно-резонансной томографии и диффузно-тензорной визуализации. В обзор включены результаты близнецовых исследований, исследований генов-кандидатов, а также полногеномных исследований ассоциаций. Результаты и их обсуждение. В целом генетически информативные исследования структурных характеристик мозга свидетельствуют о том, что для небольшого ряда структур (например, проводящие пути кортикоспинального тра...

Введение. Представленный научный обзор направлен на понимание этиологии пространственных способностей человека. Пространственное мышление – сложный комплекс когнитивных способностей, позволяющих распознавать, преобразовывать и сохранять информацию об объектах, прогнозировать трансформацию взаимодействий между ними под влиянием прочих факторов. Настоящая работа направлена на получение наиболее полного описания пространственных способностей как специфического вида умственной деятельности, лежащего в основе выполнения практических и теоретических задач, решаемых индивидом, с позиции психологии и генетики, чтобы подчеркнуть важность синтеза накопленных экспериментальных данных и психологических основ пространственного интеллекта в общем. Теоретическое обоснование. Представлен обзор результатов генетически информативных исследований пространственных способностей человека. Так как умение ориентироваться в пространстве является неотъемлемой чертой всех живых организмов, пространственные сп...

Aims: Stress induces neuroimmune responses via Toll-like receptor 4 (TLR4) activation. Here, we investigated the role of TLR4 in the effects of the stress peptide corticotropin-releasing factor (CRF) on GABAergic transmission in the central nucleus of the amygdala (CeA) following restraint stress. Methods: Tlr4 knock out (KO) and wild-type rats were exposed to no stress (naïve), a single restraint stress (1 h) or repeated restraint stress (1 h per day for 3 consecutive days). After 1 h recovery from the final stress session, whole-cell patch-clamp electrophysiology was used to investigate the effects of CRF (200 nM) on CeA GABA A-mediated spontaneous inhibitory postsynaptic currents (sIPSCs). Results: TLR4 does not regulate baseline GABAergic transmission in the CeA of naive and stresstreated animals. However, CRF significantly increased the mean sIPSC frequencies (indicating enhanced GABA release) across all genotypes and stress treatments, except for the Tlr4 KO rats that experienced repeated restraint stress. Conclusions: Overall, our results suggest a limited role for TLR4 in CRF's modulation of CeA GABAergic synapses in naïve and single stress rats, though TLR4-deficient rats that experienced repeated psychological stress exhibit a blunted CRF cellular response. Short Summary: TLR4 has a limited role in CRF's activation of the CeA under basal conditions, but interacts with the CRF system to regulate GABAergic synapse function in animals that experience repeated psychological stress.

Bestrebungen, soziale Phänomene wie Bildungsungleichheiten, gruppenbezogene Intelligenzunterschiede oder reproduktives Verhalten durch den Rückgriff auf biologische, insbesondere genetische Faktoren zu erklären, sind bekanntlich nicht neu. In mehr oder weniger regelmäßigen Abständen, und zumeist gestützt auf neue technowissenschaftliche Möglichkeiten und Verfahren, finden sich immer wieder Versuche, Soziales als biologisch oder genetisch bedingt zu begreifen. Die entsprechenden Erklärungsansätze – von der Rasseforschung über Eugenik, Soziobiologie und evolutionäre Psychologie bis zur Verhaltensgenetik – erwiesen sich allerdings als fragwürdig und letztlich unhaltbar, weshalb sie in den Sozialwissenschaften bisher nicht Fuß fassen konnten.

Increased chromosomal breakage was found in 12 patients with DSM‐IV Tourette syndrome (TS) as compared with 10 non‐TS control individuals with respect to untreated, modified RPM1‐, and BrdU treated lymphocyte cultures (P < 0.001 in each category). A hypothesis is proposed that a major TS gene is probably connected to genetic instability, and associated chromosomal marker sites may be indicative of the localization of secondary genes whose altered expression could be responsible for associated comorbid conditions. This concept implies that genes influencing higher brain functions may be situated at or near highly recombigenic areas allowing enhanced amplification, duplication and recombination following chromosomal strand breakage. Further studies on a larger sample size are required to confirm the findings relating to chromosomal breakage and to analyze the possible implications for a paradigmatic shift in linkage strategy for complex disorders by focusing on areas at or near uns...