RESUMO
OBJECTIVE: Self-regulation includes the volitional and nonvolitional regulation of emotional, cognitive, and physiological responses to stimulation. It develops from infancy through individual characteristics and the environment, with the stress hormone system as a central player. Accordingly, the authors hypothesized that genes involved in regulating the stress system, such as FK506 binding protein 5 (FKBP5), interact with early-life stress exposure, such as exposure to intimate partner violence (IPV), to predict self-regulation indicators and associated outcomes, including behavioral and learning problems in school. METHODS: Study participants were a longitudinal birth cohort of 910 children for whom FKBP5 genotypes were available and who were assessed for exposure to IPV during the first 2 years of life as well as multiple measures of self-regulation: stress-induced cortisol reactivity and fear-elicited emotional reactivity at 7, 15, and 24 months, executive function at 36, 48, and 60 months, and emotional and behavioral difficulties and reading and math achievement in school grades 1, 2, and 5. Data were analyzed using longitudinal clustering and ordinal logistic regression procedures followed by mixed linear modeling. RESULTS: Children with two copies of a risk FKBP5 haplotype and IPV exposure were significantly more likely to have a developmental trajectory characterized by high, prolonged stress-induced cortisol reactivity and emotional reactivity in toddlerhood, followed by low executive function at school entry and high emotional and behavior problems and low reading ability in the primary school grades. CONCLUSIONS: The interaction of FKBP5 and IPV affects the physiological response to stress early in life, with consequences for emotional and cognitive self-regulation. Targeting self-regulation may present an early intervention strategy for children facing genetic and environmental risk.
Assuntos
Experiências Adversas da Infância , Desenvolvimento Infantil , Violência por Parceiro Íntimo , Autocontrole , Proteínas de Ligação a Tacrolimo/genética , Criança , Pré-Escolar , Análise por Conglomerados , Inteligência Emocional/genética , Emoções , Função Executiva , Feminino , Estudos de Associação Genética , Haplótipos , Humanos , Hidrocortisona/análise , Lactente , Violência por Parceiro Íntimo/psicologia , Modelos Logísticos , Estudos Longitudinais , Masculino , Polimorfismo de Nucleotídeo Único/genética , Saliva/química , Autocontrole/psicologia , Proteínas de Ligação a Tacrolimo/fisiologiaRESUMO
BACKGROUND: Early life stress (ELS) affects facial emotion recognition (FER), as well as the underlying brain network. However, there is considerable inter-individual variability in these ELS-caused alterations. As the hypothalamic-pituitary-adrenal (HPA) axis is assumed to mediate neural and behavioural sequelae of ELS, the genetic disposition towards HPA axis reactivity might explain differential vulnerabilities. METHODS: An additive genetic profile score (GPS) of HPA axis reactivity was built from 6 SNPs in 3 HPA axis-related genes (FKBP5, CRHR1, NR3C1). We studied two independent samples. As a proof of concept, GPS was tested as a predictor of cortisol increase to a psychosocial challenge (MIST) in a healthy community sample of n = 40. For the main study, a sample of n = 170 completed a video-based FER task and retrospectively reported ELS experiences in the Childhood Trauma Questionnaire (CTQ). RESULTS: GPS positively predicted cortisol increase in the stress challenge over and above covariates. CTQ and genetic profile scores interacted to predict facial emotion recognition, such that ELS had a detrimental effect on emotion processing only in individuals with higher GPS. Post-hoc moderation analyses revealed that, while a less stress-responsive genetic profile was protective against ELS effects, individuals carrying a moderate to high GPS were affected by ELS in their ability to infer emotion from facial expressions. DISCUSSION: These results suggest that a biologically informed genetic profile score can capture the genetic disposition to HPA axis reactivity and moderates the influence of early environmental factors on facial emotion recognition. Further research should investigate the neural mechanisms underlying this moderation. The GPS used here might prove a powerful tool for studying inter-individual differences in vulnerability to early life stress.
Assuntos
Inteligência Emocional/genética , Reconhecimento Facial/fisiologia , Estresse Psicológico/genética , Adolescente , Adulto , Experiências Adversas da Infância , Emoções/fisiologia , Expressão Facial , Feminino , Perfil Genético , Humanos , Hidrocortisona/análise , Sistema Hipotálamo-Hipofisário/metabolismo , Masculino , Pessoa de Meia-Idade , Sistema Hipófise-Suprarrenal/metabolismo , Polimorfismo de Nucleotídeo Único/genética , Receptores de Hormônio Liberador da Corticotropina/genética , Receptores de Glucocorticoides/genética , Proteínas de Ligação a Tacrolimo/genéticaRESUMO
BACKGROUND: In a recent study, we found associations of a common oxytocin receptor (OXTR) polymorphism with inter-individual differences in empathy, especially with emotional empathy in women. Many other studies found specific associations of oxytocin, arginine-vasopressin, serotonin and dopamine receptor gene polymorphisms with various aspects of trait empathy. As all these receptors belong to the guanine-binding protein (G protein) coupled receptor family, it is a reasonable assumption, that alterations in genes encoding G protein subunits also influence the signal transduction in empathy related circuits. However, to the best of our knowledge, these genomic variations have not yet been studied in genetic research on empathy. METHODS: Here, we analysed associations of a common polymorphism of the GNAS gene (C393T) in a previously characterized sample of 421 healthy blood donors (231 M, 190 F; age 18-74). The GNAS gene encodes the G protein adenylyl cyclase stimulator (Gαs) G protein subunit, which activates cyclic adenosine monophosphate (cAMP)-dependent pathways by stimulating the adenylyl cyclase. Cognitive and emotional aspects of dispositional empathy were tested using Davis' Interpersonal Reactivity Index (IRI). RESULTS: In the complete sample, associations of C393T genotype with IRI empathy scores, including cognitive empathy (p = 0.055) and perspective taking (p = 0.057) scores did not reach a level of significance. None of the IRI scores was near to being significantly associated with C393T genotype for men alone. In females, however, genotype was significantly associated with cognitive empathy (r = -.204, p = 0.005) and perspective taking (r = -.209, p = 0.004), accounting for 4.2% and 4.4% of variability. The association of genotype with perspective taking remained significant after adjustment for multiple comparisons (p = 0.045). The 393C-allele, which had been identified as a risk factor in several medical conditions such as hypertension, obesity and diabetes, was associated with higher cognitive empathy compared to the T allele in our sample. CONCLUSIONS: The results suggest a significant association of GNAS C393T genotypes with the cognitive empathic capacity of perspective taking. This association could only be found in female participants.
Assuntos
Cromograninas/genética , Inteligência Emocional/genética , Empatia/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Polimorfismo de Nucleotídeo Único , Caracteres Sexuais , Adolescente , Adulto , Idoso , Emoções , Feminino , Estudos de Associação Genética , Genótipo , Voluntários Saudáveis , Humanos , Individualidade , Masculino , Pessoa de Meia-Idade , Percepção/fisiologia , Autorrelato , Adulto JovemRESUMO
BACKGROUND: This study evaluated the association between estrogen levels, emotion regulation, depression, anxiety, and stress of women with premenstrual dysphoric disorder (PMDD). We also evaluated the moderating effect of estrogen receptor (ESR) α-Xbal polymorphism on the aforementioned association. METHODS: A total of 100 women were diagnosed with PMDD based on psychiatric interviews and a prospective investigation of 3 menstrual cycles. A total of 96 normal individuals were recruited as controls. Their estrogen levels, depression, anxiety, stress, and ESR α-Xbal polymorphism in both premenstrual and follicular phases were assessed, and these data were included in the final analysis. RESULTS: The PMDD group had high depression, anxiety, and stress and low emotional adjusting and tolerating in the premenstrual phase. Emotional adjustment was negatively associated with depression, anxiety and stress. No association was observed between PMDD and estrogen level. However, premenstrual estrogen level was negatively correlated with anxiety and stress in women with PMDD. The association was only significant in G carriers of ESR α-Xbal, as was the difference in premenstrual emotion regulation between the PMDD and control groups. CONCLUSIONS: The results demonstrate the association between estrogen and anxiety in PMDD, supporting the claim that women with PMDD differ in their responses to normal estrogen levels. Furthermore, this association and dysfunctional emotional regulation in PMDD existed only among the G carriers of ESR α-Xbal polymorphism. Future studies should investigate the effect of estrogen on brain functions involving emotional regulation in women with PMDD, stratified by ESR α-Xbal polymorphism.
Assuntos
Inteligência Emocional/fisiologia , Emoções/fisiologia , Receptor alfa de Estrogênio/genética , Estrogênios/metabolismo , Transtorno Disfórico Pré-Menstrual/genética , Transtorno Disfórico Pré-Menstrual/metabolismo , Adulto , Ansiedade/genética , Ansiedade/metabolismo , Estudos Transversais , Depressão/genética , Depressão/metabolismo , Inteligência Emocional/genética , Feminino , Heterozigoto , Humanos , Ciclo Menstrual/genética , Ciclo Menstrual/metabolismo , Ciclo Menstrual/psicologia , Polimorfismo Genético , Transtorno Disfórico Pré-Menstrual/psicologia , Autocontrole , Estresse Psicológico/genética , Estresse Psicológico/metabolismo , Adulto JovemRESUMO
A previous meta-analysis (Van der Linden et al., Psychol Bull 143:36-52, 2017) showed that the General Factor of Personality (GFP) overlaps with ability as well as trait emotional intelligence (EI). The correlation between trait EI and the GFP was so high (ρ = 0.88) in that meta-analysis that these two may be considered virtually identical constructs. The present study builds on these findings by examining whether the strong phenotypic correlation between the GFP and trait EI has a genetic component. In a sample of monozygotic and dizygotic twins, the heritability estimates for the GFP and trait EI were 53 and 45%, respectively. Moreover, there was a strong genetic correlation of r = .90 between the GFP and trait EI. Additional analyses suggested that a substantial proportion of the genetic correlations reflects non-additive genetic effects (e.g., dominance and epistasis). These findings are discussed in light of evolutionary accounts of the GFP.
Assuntos
Inteligência Emocional/genética , Personalidade/genética , Adolescente , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Inteligência/genética , Masculino , Pessoa de Meia-Idade , Fenótipo , Inquéritos e Questionários , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adulto JovemRESUMO
OBJECTIVES: To explore whether facial emotion recognition (FER), impaired in both schizophrenia and alcohol and substance use disorders (AUDs/SUDs), is additionally compromised among comorbid subjects, also considering the role of catechol-O-methyltransferase (COMT) Val158Met. METHODS: We conducted a cross-sectional study, randomly recruiting 67 subjects with a DSM-IV-TR diagnosis of schizophrenia, and rigorously assessing AUDs/SUDs and COMT Val158Met polymorphism. FER was assessed using the Ekman 60 Faces Test- EK-60F. RESULTS: As a whole, the sample scored significantly lower than normative data on EK-60F. However, subjects with comorbid AUDs/SUDs did not perform worse on EK-60F than those without, who had a better performance on EK-60F if they carried the COMT Val/Met variant. CONCLUSIONS: This study is the first to date examining the impact of AUDs/SUDs and COMT variants on FER in an epidemiologically representative sample of subjects with schizophrenia. Our findings do not suggest an additional impairment from comorbid AUDs/SUDs on FER among subjects with schizophrenia, whilst COMT Val158Met, though based on a limited sample, might have a role just among those without AUDs/SUDs. Based on our results, additional research is needed also exploring differential roles of various substances.
Assuntos
Catecol O-Metiltransferase/genética , Reconhecimento Facial , Esquizofrenia/complicações , Esquizofrenia/genética , Transtornos Relacionados ao Uso de Substâncias/complicações , Transtornos Relacionados ao Uso de Substâncias/genética , Adulto , Comorbidade , Estudos Transversais , Inteligência Emocional/efeitos dos fármacos , Inteligência Emocional/genética , Reconhecimento Facial/efeitos dos fármacos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Polimorfismo de Nucleotídeo Único , Esquizofrenia/tratamento farmacológico , Esquizofrenia/epidemiologia , Psicologia do Esquizofrênico , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Transtornos Relacionados ao Uso de Substâncias/psicologiaRESUMO
AIM: To search for genetic mechanisms of facial emotion recognition (FER) impairment, one of the features of schizophrenia that affects social adaptation of patients. Based on the view implicating the interplay between dopaminergic and glutamatergic systems into the pathogenesis of schizophrenia, authors explored the interaction effects of the C366G polymorphism in the GRIN2B gene encoding NMDA receptor subunit NR2B with ANKK1/DRD2 Taq1A and 48-VNTR DRD4 polymorphisms on FER. MATERIAL AND METHODS: GRIN2B -DRD2 interaction effects were studied in a sample of 237 patients and 235 healthy controls, GRIN2B - DRD4 in 268 patients and 208 controls. RESULTS AND CONCLUSION: Both effects were significant in combined samples of patients and controls (GRIN2B X DRD2, F=4.12, p=0.043; GRIN2B X DRD4, F=6.43, p=0.012). Further analysis confirmed the interaction effect of GRIN2B and DRD2 polymorphisms on FER in patients with schizophrenia. In patients with a less efficient allele of the DRD2 in the absence of the minor allele of the GRIN2B C366G polymorphism, the results were close to normal values while patients with minor alleles of both polymorphisms showed the worst results. This finding is in line with the conceptions on a possible role of NMDA-receptor hypofunction and D2-mediated regulation of NMDA-receptor activity in FER impairments in schizophrenia.
Assuntos
Inteligência Emocional/genética , Reconhecimento Facial , Receptores de Dopamina D2/genética , Receptores de Dopamina D4/genética , Receptores de N-Metil-D-Aspartato/genética , Esquizofrenia/genética , Psicologia do Esquizofrênico , Adulto , Alelos , Feminino , Loci Gênicos , Marcadores Genéticos , Humanos , Masculino , Polimorfismo Genético , Adulto JovemRESUMO
BACKGROUND: Oxytocin receptor (OXTR) gene polymorphisms are related to individual differences in emotional processing of social cues. However, whether OXTR polymorphisms affect emotional processing of nonsocial cues remains unclear. The present study investigated the relationship between the OXTR rs53576 polymorphism and emotional processing of social cues and nonsocial cues. METHODS: Event-related potentials were recorded from 88 male participants while images of humans and images of objects were presented as social cues and nonsocial cues, respectively. RESULTS: First, the results showed that GG carriers of OXTR rs53576 showed more negative N1 (50-200 ms) than AA carriers in response to images of both humans and objects. Second, GG carriers showed more negative N2 (200-320 ms) than AA carriers in response to images of humans but not in response to images of objects. Third, GG carriers showed more negative N2 in response to images of humans than images of objects, whereas AA carriers showed the opposite pattern. Fourth, we observed no difference in late positive potential (600-1000 ms) to images of humans or objects that depended on the OXTR rs53576 polymorphism. CONCLUSIONS: These results suggest that the OXTR rs53576 polymorphism affects emotional processing of not only social cues but also nonsocial cues in the very early stage (reflected in N1); however, the data also suggest that the OXTR rs53576 polymorphism is related specifically to increased emotional processing of social cues in the middle stage (reflected in N2).
Assuntos
Inteligência Emocional/genética , Emoções , Polimorfismo de Nucleotídeo Único/genética , Receptores de Ocitocina/genética , Adulto , Sinais (Psicologia) , Eletroencefalografia , Potenciais Evocados/genética , Humanos , Masculino , Estimulação Luminosa , Adulto JovemRESUMO
Breakthroughs in genomics have begun to unravel the genetic architecture of schizophrenia risk, providing methods for quantifying schizophrenia polygenic risk based on common genetic variants. Our objective in the current study was to understand the relationship between schizophrenia genetic risk variants and neurocognitive development in healthy individuals. We first used combined genomic and neurocognitive data from the Philadelphia Neurodevelopmental Cohort (4303 participants ages 8-21 years) to screen 26 neurocognitive phenotypes for their association with schizophrenia polygenic risk. Schizophrenia polygenic risk was estimated for each participant based on summary statistics from the most recent schizophrenia genome-wide association analysis (Psychiatric Genomics Consortium 2014). After correction for multiple comparisons, greater schizophrenia polygenic risk was significantly associated with reduced speed of emotion identification and verbal reasoning. These associations were significant by age 9 years and there was no evidence of interaction between schizophrenia polygenic risk and age on neurocognitive performance. We then looked at the association between schizophrenia polygenic risk and emotion identification speed in the Harvard/MGH Brain Genomics Superstruct Project sample (695 participants ages 18-35 years), where we replicated the association between schizophrenia polygenic risk and emotion identification speed. These analyses provide evidence for a replicable association between polygenic risk for schizophrenia and a specific aspect of social cognition. Our findings indicate that individual differences in genetic risk for schizophrenia are linked with the development of aspects of social cognition and potentially verbal reasoning, and that these associations emerge relatively early in development.
Assuntos
Inteligência Emocional/genética , Predisposição Genética para Doença/genética , Herança Multifatorial/genética , Transtornos Neurocognitivos/genética , Esquizofrenia/genética , Psicologia do Esquizofrênico , Habilidades Sociais , Adolescente , Fatores Etários , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Transtornos Neurocognitivos/diagnóstico , Testes Neuropsicológicos/estatística & dados numéricos , Fenótipo , Psicometria , Tempo de Reação/genética , Risco , Esquizofrenia/diagnóstico , Estatística como Assunto , Adulto JovemRESUMO
Exposure to adverse rearing environments including institutional deprivation and severe childhood abuse is associated with an increased risk for mental and physical health problems across the lifespan. Although the mechanisms mediating these effects are not known, recent work in rodent models suggests that epigenetic processes may be involved. We studied the impact of severe early-life adversity on epigenetic variation in a sample of adolescents adopted from the severely depriving orphanages of the Romanian communist era in the 1980s. We quantified buccal cell DNA methylation at ~400 000 sites across the genome in Romanian adoptees exposed to either extended (6-43 months; n=16) or limited duration (<6 months; n=17) of severe early-life deprivation, in addition to a matched sample of UK adoptees (n=16) not exposed to severe deprivation. Although no probe-wise differences remained significant after controlling for the number of probes tested, we identified an exposure-associated differentially methylated region (DMR) spanning nine sequential CpG sites in the promoter-regulatory region of the cytochrome P450 2E1 gene (CYP2E1) on chromosome 10 (corrected P=2.98 × 10(-5)). Elevated DNA methylation across this region was also associated with deprivation-related clinical markers of impaired social cognition. Our data suggest that environmental insults of sufficient biological impact during early development are associated with long-lasting epigenetic changes, potentially reflecting a biological mechanism linking the effects of early-life adversity to cognitive and neurobiological phenotypes.
Assuntos
Maus-Tratos Infantis/psicologia , Crianças Órfãs , Citocromo P-450 CYP2E1/genética , Metilação de DNA/genética , Carência Psicossocial , Sítio de Iniciação de Transcrição , Adolescente , Adoção , Criança , Pré-Escolar , Transtornos Cognitivos/genética , Transtornos Cognitivos/psicologia , Estudos de Coortes , Inteligência Emocional/genética , Epigênese Genética/genética , Feminino , Humanos , Lactente , Masculino , Romênia , Ajustamento Social , Fatores de TempoRESUMO
Recent studies have provided consistent evidence for a genetic influence on chronic widespread pain (CWP). The aim of this study was to investigate (1) the etiological structure underlying CWP by examining the covariation between CWP and psychological comorbidities and psychoaffective correlates and (2) the decomposition of the covariation into genetic and environmental components. A total of 3266 female twins (mean age 56.6 years) were subject to multivariate analyses. Using validated questionnaires to classify twins as having CWP, the prevalence of CWP was 20.8%. In the multivariate analysis, the most suitable model was the common pathway model. This model revealed 2 underlying latent variables, one common to anxiety, emotional intelligence, and emotional instability (f1) and the other common to depression and CWP (f2), the latter being highly heritable (86%). Both latent variables (f1 and f2) shared an additive genetic and a nonshared environmental factor. In addition, a second additive genetic factor loading only on f2 was found. This study reveals the structure of genetic and environmental influences of CWP and its psychoaffective correlates. The results show that the clustering of CWP and depression is due to a common, highly heritable, underlying latent trait. In addition, we found evidence that CWP, anxiety, emotional instability, and emotional intelligence are influenced by different underlying latent traits sharing the same genetic and nonshared environmental factors. This is the first study to reveal the structure and relative importance of genetic and environmental influences on complex etiological mechanisms of CWP and its correlates.
Assuntos
Dor Crônica/psicologia , Gêmeos/genética , Gêmeos/psicologia , Adulto , Idoso , Ansiedade/epidemiologia , Ansiedade/genética , Ansiedade/psicologia , Dor Crônica/epidemiologia , Dor Crônica/genética , Comorbidade , Depressão/epidemiologia , Depressão/genética , Depressão/psicologia , Inteligência Emocional/genética , Emoções , Meio Ambiente , Feminino , Humanos , Pessoa de Meia-Idade , Análise Multivariada , Prevalência , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: Autism spectrum disorder is characterized by deficits in social function and the presence of repetitive and restrictive behaviors. Following a previous test of principle, the authors adopted a quantitative approach to discovering genes contributing to the broader autism phenotype by using social responsiveness as an endophenotype for autism spectrum disorder. METHOD: Linkage analyses using scores from the Social Responsiveness Scale were performed in 590 families from the Autism Genetic Resource Exchange, a largely multiplex autism spectrum disorder cohort. Regional and genomewide association analyses were performed to search for common variants contributing to social responsiveness. RESULTS: Social Responsiveness Scale scores were unimodally distributed in male offspring from multiplex autism families, in contrast with a bimodal distribution observed in female offspring. In correlated analyses differing by Social Responsiveness Scale respondent, genomewide significant linkage for social responsiveness was identified at chr8p21.3 (multipoint LOD=4.11; teacher/parent scores) and chr8q24.22 (multipoint LOD=4.54; parent-only scores), respectively. Genomewide or linkage-directed association analyses did not detect common variants contributing to social responsiveness. CONCLUSIONS: The sex-differential distributions of Social Responsiveness Scale scores in multiplex autism families likely reflect mechanisms contributing to the sex ratio for autism observed in the general population and form a quantitative signature of reduced penetrance of inherited liability to autism spectrum disorder among females. The identification of two strong loci for social responsiveness validates the endophenotype approach for the identification of genetic variants contributing to complex traits such as autism spectrum disorder. While causal mutations have yet to be identified, these findings are consistent with segregation of rare genetic variants influencing social responsiveness and underscore the increasingly recognized role of rare inherited variants in the genetic architecture of autism spectrum disorder.
Assuntos
Sintomas Comportamentais/genética , Transtornos Globais do Desenvolvimento Infantil , Cromossomos Humanos Par 8 , Inteligência Emocional/genética , Endofenótipos , Adulto , Criança , Transtornos Globais do Desenvolvimento Infantil/genética , Transtornos Globais do Desenvolvimento Infantil/psicologia , Família , Feminino , Variação Genética , Estudo de Associação Genômica Ampla , Humanos , Masculino , Distribuição por SexoRESUMO
The phenotypic (observed), genetic, and environmental correlations were examined in a sample of adult twins between the four factors and global score of the trait emotional intelligence questionnaire (TEIQue) and the seven vocational interest factors of the Jackson Career Explorer (JCE). Multiple significant correlations were found involving the work style vocational interest factor (consisting of job security, stamina, accountability, planfulness, and interpersonal confidence) and the social vocational interest factor (which included interests in the social sciences, personal services, teaching, social services, and elementary education), both of which correlated significantly with all of the TEIQue variables (well-being, self-control, emotionality, sociability, and global trait EI). Following bivariate genetic analyses, most of the significant phenotypic correlations were found to also have significant genetic correlations as well as significant non-shared (unique) environmental correlations.
Assuntos
Inteligência Emocional/genética , Interação Gene-Ambiente , Característica Quantitativa Herdável , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
The aim of the present study was to evaluate the association of dopaminergic gene variants with emotion dysregulation (EMD) and attention-deficit/hyperactivity disorder (ADHD) symptoms in children with autism spectrum disorder (ASD). Three dopamine transporter gene (SLC6A3/DAT1) polymorphisms (intron8 5/6 VNTR, 3'-UTR 9/10 VNTR, rs27072 in the 3'-UTR) and one dopamine D2 receptor gene (DRD2) variant (rs2283265) were selected for genotyping based on à priori evidence of regulatory activity or, in the case of DAT1 9/10 VNTR, commonly reported associations with ADHD. A sample of 110 children with ASD was assessed with a rigorously validated DSM-IV-referenced rating scale. Global EMD severity (parents' ratings) was associated with DAT1 intron8 (ηp(2)=.063) and rs2283265 (ηp(2)=.044). Findings for DAT1 intron8 were also significant for two EMD subscales, generalized anxiety (ηp(2)=.065) and depression (ηp(2)=.059), and for DRD2 rs2283265, depression (ηp(2)=.053). DRD2 rs2283265 was associated with teachers' global ratings of ADHD (ηp(2)=.052). DAT1 intron8 was associated with parent-rated hyperactivity (ηp(2)=.045) and both DAT1 9/10 VNTR (ηp(2)=.105) and DRD2 rs2283265 (ηp(2)=.069) were associated with teacher-rated inattention. These findings suggest that dopaminergic gene polymorphisms may modulate EMD and ADHD symptoms in children with ASD but require replication with larger independent samples.
Assuntos
Sintomas Afetivos/genética , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtornos Globais do Desenvolvimento Infantil/genética , Proteínas da Membrana Plasmática de Transporte de Dopamina/genética , Inteligência Emocional/genética , Variação Genética/genética , Receptores de Dopamina D2/genética , Adolescente , Sintomas Afetivos/diagnóstico , Sintomas Afetivos/psicologia , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/genética , Transtornos de Ansiedade/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/psicologia , Pré-Escolar , Comorbidade , Transtorno Depressivo Maior/diagnóstico , Transtorno Depressivo Maior/genética , Transtorno Depressivo Maior/psicologia , Feminino , Genótipo , Humanos , Íntrons/genética , Masculino , Repetições Minissatélites/genéticaRESUMO
BACKGROUND: Investigating genetic modulation of emotion processing may contribute to the understanding of heritable mechanisms of emotional disorders. The aim of the present study was to test the effects of catechol-O-methyltransferase (COMT) val158met and serotonin-transporter-linked promoter region (5-HTTLPR) polymorphisms on facial emotion processing in healthy individuals. METHODS: Two hundred and seventy five (167 female) participants were asked to complete a computerized facial affect recognition task, which involved four experimental conditions, each containing one type of emotional face (fearful, angry, sad or happy) intermixed with neutral faces. Participants were asked to indicate whether the face displayed an emotion or was neutral. The COMT-val158met and 5-HTTLPR polymorphisms were genotyped. RESULTS: Met homozygotes (COMT) showed a stronger bias to perceive neutral faces as expressions of anger, compared with val homozygotes. However, the S-homozygotes (5-HTTLPR) showed a reduced bias to perceive neutral faces as expressions of happiness, compared to L-homozygotes. No interaction between 5-HTTLPR and COMT was found. CONCLUSIONS: These results add to the knowledge of individual differences in social cognition that are modulated via serotonergic and dopaminergic systems. This potentially could contribute to the understanding of the mechanisms of susceptibility to emotional disorders.
Assuntos
Ira , Catecol O-Metiltransferase/genética , Inteligência Emocional/genética , Expressão Facial , Felicidade , Polimorfismo de Nucleotídeo Único/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adulto , Sintomas Afetivos/genética , Feminino , Predisposição Genética para Doença/genética , Técnicas de Genotipagem , Homozigoto , Humanos , MasculinoRESUMO
BACKGROUND: A single nucleotide polymorphism (rs7914558) within the cyclin M2 (CNNM2) gene was recently identified as a common risk variant for schizophrenia. The mechanism by which CNNM2 confers risk is unknown. AIMS: To determine the impact of the rs7914558 risk 'G' allele [corrected] on measures of neurocognition, social cognition and brain structure. METHOD: Patients with schizophrenia (n = 400) and healthy controls (n = 160) completed measures of neuropsychological function and social cognition. Structural magnetic resonance imaging data were also acquired from an overlapping sample of Irish healthy controls (n = 159) and an independent sample of Italian patients (n = 82) and healthy controls (n = 39). RESULTS: No effects of genotype on neuropsychological test performance were observed. However, a dosage effect of the risk allele was found for an index of social cognition (i.e. attributional style), such that risk status was associated with reduced self-serving bias across groups (GG>AG>AA, P<0.05). Using voxel-based morphometry to investigate neuroanatomical regions putatively supporting social cognition, risk carriers had relatively increased grey matter volume in the right temporal pole and right anterior cingulate cortex (Pcorrected<0.05) in the Irish healthy controls sample; neuroanatomical associations between CNNM2 and grey matter volume in anterior cingulate cortex were also observed in the Italian schizophrenia and healthy controls samples. CONCLUSIONS: Although the biological role of CNNM2 in schizophrenia remains unknown, these data suggest that this CNNM2 risk variant rs7914558 may have an impact on neural systems relevant to social cognition. How such effects may mediate the relationship between genotype and disease risk remains to be established.
Assuntos
Encéfalo/patologia , Ciclinas/fisiologia , Controle Interno-Externo , Esquizofrenia/genética , Psicologia do Esquizofrênico , Adolescente , Adulto , Idoso , Alelos , Análise de Variância , Estudos de Casos e Controles , Proteínas de Transporte de Cátions , Ciclinas/genética , Inteligência Emocional/genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Giro do Cíngulo/patologia , Humanos , Irlanda , Itália , Desequilíbrio de Ligação , Imageamento por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Testes Neuropsicológicos/estatística & dados numéricos , Tamanho do Órgão , Polimorfismo de Nucleotídeo Único/fisiologia , Esquizofrenia/patologia , Lobo Temporal/patologia , Adulto JovemRESUMO
Whether genetic factors affect social cognition, particularly emotion management, requires elucidation. This study investigates whether social cognition varies with genetic variations of COMT and tryptophan hydroxylase-2 (TPH2), which modulate dopamine and serotonin neurotransmissions respectively, and thereby emotion regulation. NIMH-recommended "managing emotions branch and 2 subtasks" of MSCEIT and six neurocognition domains, and genotypes of COMT Val158Met and TPH2 G703T were measured in 150 Han-Chinese healthy adults. Subjects carrying the M allele (M group) of COMT exceeded Val/Val homozygotes (V group) in managing emotions branch (p = 0.032) and emotional relation subtask (p = 0.037). TPH2 T/T homozygotes (T group) excelled those with the G allele (G group) in emotional management subtask (p = 0.025). Subjects with M+T variation surpassed the other 3 groups (M+G, V+T and V+G) in managing emotion branch (p = 0.002), emotional relation subtask (p = 0.023), and emotional management subtask (p = 0.002). The findings remained after control for gender, age, education, and neurocognitive functions. Synergistically, the effect size of COMT-TPH2 combination surmounted the sum of separate effect sizes of COMT and TPH2. The findings suggest that genetic variations of COMT and TPH2 have synergistic effects on social cognition in the general population.
Assuntos
Catecol O-Metiltransferase/genética , Inteligência Emocional/genética , Emoções/fisiologia , Regulação da Expressão Gênica/genética , Percepção Social , Triptofano Hidroxilase/genética , Adolescente , Adulto , Idoso , Alelos , Análise de Variância , China , Dopamina/fisiologia , Feminino , Técnicas de Genotipagem/métodos , Homozigoto , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Modelos Genéticos , Testes Neuropsicológicos/estatística & dados numéricos , Determinação da Personalidade/estatística & dados numéricos , Polimorfismo Genético/genética , Serotonina/fisiologia , Adulto JovemRESUMO
A growing body of literature examining the antecedents of victimization experiences has suggested that personality constructs play a role in the origins of victimization. Low self-control, in particular, represents a trait thought to directly increase the risk of victimization. At the same time, different lines of evidence suggest that genetic factors account for portions of the variance in both self-control and victimization. These findings leave open the possibility that the two traits might covary because of previously unmeasured genetic factors. The current analysis seeks to test this possibility. Additionally, we examine whether the covariation between self-control and victimization persists once genetic effects are held constant. Our findings suggest a nuanced explanation for the relationship between self-control and experiences of victimization.