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1.
BMC Womens Health ; 24(1): 507, 2024 Sep 12.
Artigo em Inglês | MEDLINE | ID: mdl-39267020

RESUMO

BACKGROUND: The causality between neuroticism, a personality trait characterized by the tendency to experience negative emotions, and female reproductive diseases remains unclear. To provide evidence for the development of effective screening and prevention strategies, this study employed Mendelian randomization (MR) to investigate the causality between neuroticism clusters and female reproductive diseases. METHODS: Instrumental variables were obtained from large-scale genome-wide association studies of populations of European descent involving three neuroticism clusters (depressed affect, worry, sensitivity to environmental stress, and adversity [SESA]) in the Complex Trait Genetics database and six female reproductive diseases (infertility, polycystic ovary syndrome [PCOS], spontaneous abortion, recurrent spontaneous abortion, endometriosis, and uterine fibroids) in the FinnGen database. The bidirectional two-sample MR analysis was conducted using the inverse variance-weighted, weighted median, and MR-Egger methods, whereas the sensitivity analysis was conducted using the Cochran's Q-test, MR-Egger intercept, and leave-one-out analysis. RESULTS: In the forward analysis, genetically predicted depressed affect and worry components of neuroticism significantly increased the risk of infertility (depressed affect: odds ratio [OR] = 1.399, 95% confidence interval [CI]: 1.054-1.856, p = 0.020; worry: OR = 1.587, 95% CI: 1.229-2.049, p = 0.000) and endometriosis (depressed affect: OR = 1.611, 95% CI: 1.234-2.102, p = 0.000; worry: OR = 1.812, 95% CI: 1.405-2.338, p = 0.000). Genetically predicted SESA component of neuroticism increased only the risk of endometriosis (OR = 1.524, 95% CI: 1.104-2.103, p = 0.010). In the reverse analysis, genetically predicted PCOS was causally associated with an increased risk of the worry component of neuroticism (Beta = 0.009, 95% CI: 0.003-0.016, p = 0.003). CONCLUSIONS: The MR study showed that the three neuroticism personality clusters had definite causal effects on at least one specific female reproductive disease. Moreover, PCOS may increase the risk of the worry component of neuroticism. This finding suggests the need to screen for specific female reproductive diseases in populations with high neuroticism and assess the psychological status of patients with PCOS.


Assuntos
Estudo de Associação Genômica Ampla , Análise da Randomização Mendeliana , Neuroticismo , Humanos , Feminino , Infertilidade Feminina/psicologia , Infertilidade Feminina/genética , Endometriose/psicologia , Endometriose/genética , Síndrome do Ovário Policístico/psicologia , Síndrome do Ovário Policístico/genética , Síndrome do Ovário Policístico/complicações , População Branca/psicologia , População Branca/genética , População Branca/estatística & dados numéricos , Leiomioma/genética , Leiomioma/psicologia , Aborto Espontâneo/psicologia , Aborto Espontâneo/genética , Aborto Espontâneo/epidemiologia , Depressão/genética , Depressão/epidemiologia , Depressão/psicologia , Doenças dos Genitais Femininos/psicologia , Doenças dos Genitais Femininos/genética , Doenças dos Genitais Femininos/epidemiologia , Aborto Habitual/genética , Aborto Habitual/psicologia , Europa (Continente)/epidemiologia , Personalidade/genética
2.
Int J Mol Sci ; 25(14)2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-39062900

RESUMO

The factors influencing the development and maintenance of nicotine dependence are numerous and complex. Recent studies indicate that smokers exhibit distinct genetic predispositions to nicotine dependence. We aimed to analyse (1) the association between rs2551038 and cigarette smoking, (2) the association of between the rs3864236-rs2526303-rs2551038 haplotype and cigarette smoking, and (3) the personality traits measured by the NEO Five-Factor Inventory in cigarette users and never-smokers. No significant differences were present in the frequency of rs2551038 genotypes and alleles in the studied cigarette users compared to the control group. Cigarette users, compared to the control group, had higher scores on the NEO-FFI Extraversion scale (p = 0.0011), and lower scores were obtained by the cigarette users for the NEO-FFI Openness (p = 0.0060), Agreeability (p ≤ 0.000), and Conscientiousness (p ≤ 0.000) scales. There was a significant positive Pearson's linear correlation between the age and the Fagestrom test (r = 0.346; p < 0.0001) and the NEO-FFI Openness scale (r = 0.180; p < 0.0001) in the group of cigarette users. We observed significant linkage disequilibrium between rs2526303 and rs3864236 (D' = 0.3581; p < 2.2204 × 10-16) and between rs2526303 and rs2551038 (D' = 0.9993; p < 2.2204 × 10-16) in the tested sample. The sex-stratified haplotype analysis revealed that in the group of male never-smokers, the GTC haplotype was significantly more frequent than in the group of cigarette users (38% vs. 22%; p = 0.0039). The presented study reveals significant differences in personality trait scores between cases and controls. Moreover, the sex-stratified analysis showed significant differences in haplotype distribution. These results underscore the interplay between genetic predisposition, sex, and personality in nicotine-using individuals.


Assuntos
Proteínas do Tecido Nervoso , Personalidade , Polimorfismo de Nucleotídeo Único , Fumar , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Alelos , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Haplótipos , Desequilíbrio de Ligação , Proteínas do Tecido Nervoso/genética , Personalidade/genética , Fumar/genética , Tabagismo/genética , Tabagismo/psicologia
3.
Int J Mol Sci ; 25(2)2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-38279213

RESUMO

The development of a substance use disorder (SUD) is a multifaceted process influenced by both genetic and environmental factors. Recent research has suggested the potential involvement of the HINT1 gene in various aspects of plasticity, mood regulation, anxiety-like behaviour, and stress-coping mechanisms. Moreover, personality traits are also recognised to be instrumental in developing substance dependency. Given these considerations, our study investigated the associations among cigarette smoking, personality traits, and the rs2526303 polymorphism. Additionally, we investigated the interactions between personality traits and rs2526303 in the HINT1 gene. The study group comprised 531 volunteers: 375 cigarette users (mean age = 29.42 ± 10.72; F = 49%, M = 51%) and 156 never-smokers (mean age = 26.93 ± 10.09; F = 79%, M = 21%). Genotyping was conducted using the real-time PCR method, and the NEO Five-Factor Personality Inventory and State-Trait Anxiety Inventory were administered. There were no statistically significant differences in the frequency of rs2526303 genotypes and alleles in the cigarette user group compared to the control group. Compared to the control group, the cigarette users obtained higher scores in the assessment of the NEO-FFI Extraversion scale and lower results for the NEO-FFI Openness, Agreeableness, and Conscientiousness scales. Additionally, there was a statistically significant effect of rs2526303 genotype interaction and cigarette-using status on the conscientiousness scale. These outcomes collectively suggest a notable association between cigarette smoking and specific dimensions of personality, particularly highlighting differences in extraversion, openness, agreeableness, and conscientiousness. Furthermore, the detected interaction effect involving rs2526303 concerning conscientiousness signifies a complex interplay between genetic factors and smoking behaviour.


Assuntos
Transtornos Relacionados ao Uso de Substâncias , Produtos do Tabaco , Humanos , Adolescente , Adulto Jovem , Adulto , Fumantes , Polimorfismo Genético , Inventário de Personalidade , Personalidade/genética , Transtornos Relacionados ao Uso de Substâncias/genética , Proteínas do Tecido Nervoso/genética
4.
J Affect Disord ; 340: 197-203, 2023 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-37557993

RESUMO

Adjustment disorder has three main subtypes: adjustment disorder with depressed mood, adjustment disorder with anxiety, and adjustment disorder with disturbance of conduct. The disorder is moderately heritable and has lifetime comorbidities with major depressive disorder (MDD), anxiety disorders, or risk-tolerant personality. However, it remains unclear whether the degrees of genetic correlations between adjustment disorder and other psychiatric disorders and intermediate phenotypes are similar or different to those between MDD, anxiety disorders or risk-tolerant personality and these other psychiatric disorders and intermediate phenotypes. To compare patterns of genetic correlations, we utilized large-scale genome-wide association study summary statistics for adjustment disorder-related disorders and personality trait, eleven other psychiatric disorders and fifteen intermediate phenotypes. Adjustment disorder had highly positive genetic correlations with MDD, anxiety disorders, and risk-tolerant personality. Among other psychiatric disorders, adjustment disorder, MDD, anxiety disorders and risk-tolerant personality were positively correlated with risks for schizophrenia (SCZ), bipolar disorder (BD), SCZ + BD, attention-deficit/hyperactivity disorder, and cross disorders. In contrast, adjustment disorder was not significantly correlated with risks for obsessive-compulsive disorder, Tourette syndrome, or posttraumatic stress disorder despite significant genetic correlations of MDD or anxiety disorders with these disorders. Among intermediate phenotypes, adjustment disorder, MDD, anxiety disorders, and risk-tolerant personality commonly had a younger age at first sexual intercourse, first birth, and menopause, lower cognitive ability, and higher rate of smoking initiation. Adjustment disorder was not genetically correlated with extraversion, although the related disorder and personality were correlated with extraversion. Only adjustment disorder was correlated with a higher smoking quantity. These findings suggest that adjustment disorder could share a genetic etiology with MDD, anxiety disorders and risk-tolerant personality trait, as well as have a disorder-specific genetic etiology.


Assuntos
Transtorno Depressivo Maior , Feminino , Humanos , Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/genética , Transtorno Depressivo Maior/psicologia , Transtornos de Adaptação , Estudo de Associação Genômica Ampla , Depressão , Ansiedade , Transtornos de Ansiedade/epidemiologia , Transtornos de Ansiedade/genética , Personalidade/genética
5.
Int J Mol Sci ; 24(12)2023 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-37373392

RESUMO

Nicotine is the major reinforcing component of tobacco and it is believed that the pharmacological effects of nicotine motivate the initiation and maintenance of a smoking habit. HINT1 appears to play a role in the modulation of the effects of drug abuse. Hence, the aim of this study was the analysis of the association between the rs3864283 polymorphism of the HINT1 gene and cigarette use; the analysis of personality traits assessed by the means of the NEO-FFI Inventory; the analysis of anxiety measured by the STAI questionnaire; and the analysis of the interactions between the rs3864283 and both personality traits and anxiety. The study group consisted of 522 volunteers. Of these, 371 were cigarette users and 151 were never-smokers. The genomic DNA was isolated from venous blood using standard procedures. The results of both inventories, i.e., NEO-FFI and STAI., were reported as the sten scores. Genotyping was conducted with the real-time PCR method. Statistically significant differences were found in the frequency of rs3864283 genotypes and alleles in the tested sample of Cigarette Users when compared to the control group. The Cigarette Users compared to the control group obtained higher scores in the assessment of NEO-FFI extraversion scale, and significantly lower results were obtained for the NEO-FFI openness scale, the agreeableness scale, and the conscientiousness scale. There was a statistically significant effect of rs3864283 genotype interaction and Cigarette Use or not using (control group) on the extraversion scale. There was also a statistically significant effect of Cigarette Users or the control group on the extraversion scale score. The results obtained in the presented study indicated a significant association between the HINT1 rs3864283 variant and smoking status. Moreover, this is the first study incorporating genetic association of above-mentioned polymorphic site with interaction analysis of personality traits and anxiety. Overall, the results of this study suggest that HINT1 is an important genetic component associated with nicotine usage mechanisms.


Assuntos
Nicotina , Produtos do Tabaco , Humanos , Personalidade/genética , Polimorfismo Genético , Ansiedade/genética , Inventário de Personalidade , Proteínas do Tecido Nervoso/genética
6.
Psychol Med ; 53(1): 267-273, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-34376264

RESUMO

BACKGROUND: It has long been hypothesized that personality plays a causative role in incidence and outcome of breast cancer (BC), but epidemiological evidence of association between personality and BC is inconsistent. METHOD: We used two-sample Mendelian randomization analysis to estimate the impact of personality on the risk and survival of BC. In total, 109 single nucleotide polymorphisms (SNPs) were utilized as instruments of neuroticism from a large-scale Genome-Wide Association Studies (GWAS), and five SNPs were utilized as instruments of extraversion from Genetic of Personality Consortium and 23andMe. Genetic association with the risk and survival of overall and individual subtype BC were obtained from the Breast Cancer Association Consortium. RESULT: Neuroticism is significantly associated with the risk of overall BC [odds ratio (OR) 1.06; 95% confidence interval (CI) 1.01-1.11; p = 0.015] and the risk of luminal A BC (OR 1.09; 95% CI 1.03-1.16; p = 0.004). Extraversion is not associated with the risk of BC. None of neuroticism or extraversion is associated with the survival of BC. CONCLUSION: Neuroticism was associated with a modest increased risk of BC and particularly luminal A BC.


Assuntos
Neoplasias da Mama , Estudo de Associação Genômica Ampla , Humanos , Feminino , Neoplasias da Mama/genética , Análise da Randomização Mendeliana , Personalidade/genética , Neuroticismo , Polimorfismo de Nucleotídeo Único
7.
Artigo em Inglês | MEDLINE | ID: mdl-35457612

RESUMO

We nowadays record growing numbers of e-cigarette users. The development of nicotine dependence is a result of many factors, including genetics and personality. In this study we analyzed two polymorphisms-rs1985242 and rs1062613-in the serotonin receptor HTR3A gene in a group of e-cigarette users (n = 135) and controls (n = 106). Personality traits were measured using the NEO Five-Factor Inventory. The comparison of e-cigarette users with the control group indicates that the former showed significantly higher scores on the neuroticism scale and lower scores on the scales of extraversion and conscientiousness of the NEO-FFI. Homozygote variants of rs1985242 were more frequent in the study group. The results of the 2 × 3 factorial ANOVA for e-cigarette users and the control group as well as interaction between the HTR3A rs1985242 variants were found for the NEO-FFI conscientiousness scale. These results allow us to conclude that the combination of psychological factors and genetic data creates a possibility for making more complete models of substance use disorders.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Vaping , Personalidade/genética , Inventário de Personalidade , Polimorfismo Genético , Receptores de Serotonina/genética
8.
J Pers ; 89(6): 1206-1222, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33998684

RESUMO

INTRODUCTION: Diurnal preferences have been linked to personality but often with mixed results. The present study examines the relationships between sleep timing (chronotype), diurnal preferences, and the Five-Factor Model of personality traits at the phenotypic and genetic level. METHODS: Self- and informant-reports of the NEO Personality Inventory-3, self-reports of the Munich Chronotype Questionnaire, and DNA samples were available for 2,515 Estonian adults (Mage  = 45.76 years; 59% females). Genetic correlations were obtained through summary statistics of genome-wide association studies. RESULTS: Results showed that higher Conscientiousness and lower Openness to Experience were significant predictors of earlier chronotype. At the level of facets, we found that more straightforward (A2) and excitement-seeking (E5), yet less self-disciplined (C5) people were more likely to have later chronotypes. The nuance-level Polypersonality score was correlated with chronotype at r = .28 (p < .001). Conscientiousness and Openness were genetically related with diurnal preferences. The polygenic score for morningness-eveningness significantly predicted the Polypersonality score. CONCLUSION: Phenotypic measures of chronotype and personality showed significant associations at all three of levels of the personality hierarchy. Our findings indicate that the relationship between personality and morningness-eveningness is partly due to genetic factors. Future studies are necessary to further refine the relationship.


Assuntos
Ritmo Circadiano , Estudo de Associação Genômica Ampla , Adulto , Ritmo Circadiano/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Personalidade/genética , Sono/genética , Inquéritos e Questionários
9.
Nicotine Tob Res ; 23(10): 1754-1762, 2021 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-33912956

RESUMO

INTRODUCTION: Maternal smoking is a risk factor for offspring smoking. Lifetime maternal smoking vs. prenatal tobacco exposure (PTE) appears to act through different mechanisms. This study tested the hypothesis that maternal smoking measures' effects on offspring smoking could be attributable to hereditary mechanisms: personality traits (novelty-seeking, impulsivity, neuroticism, and self-esteem) and initial subjective smoking experiences (pleasurable, unpleasurable, and dizziness). METHODS: Data were drawn from the Social and Emotional Contexts of Adolescent Smoking Patterns study, an 8-year longitudinal study of 9th or 10th graders at baseline (≈age 15) who experiment with smoking (<100 lifetime cigarettes; N = 594) at baseline. The young adult smoking frequency at the 8-year follow-up (≈age 23) was examined as a function of baseline characteristics (heritable trait, maternal smoking, PTE, and sex) and baseline smoking frequency and nicotine dependence. Structural equation models determined whether the inclusion of each heritable trait among offspring confounded the effects of maternal smoking (PTE or maternal smoking) on offspring smoking and nicotine dependence. RESULTS: Impulsiveness was associated with intermediate adolescent smoking frequency (B = 0.135, SD = 0.043, p = .002) and nicotine dependence (B = 0.012, SD = 0.003, p < .001). Unpleasurable first experience (B = 0.886, SD = 0.374, p = .018) and dizziness (B = 0.629, SD = 0.293, p = .032) showed a trend with intermediate smoking frequency that was nonsignificant after correcting for multiple comparisons. These traits did not confound maternal smoking's effects. CONCLUSIONS: None of the heritable traits examined in this model explained the effect of maternal smoking measures on adolescence or young adulthood offspring smoking. Further research is needed to elucidate the mechanism by which PTE and maternal smoking are linked to offspring smoking. IMPLICATIONS: Prenatal tobacco exposure (PTE) and mother's lifetime smoking present separate and independent risks for offspring smoking; however, their mechanisms seem unrelated to heritable personality traits and initial subjective smoking experiences. These findings have implications for separate screening strategies tailored to different age groups, especially related to PTE's risk of smoking in young adulthood. Additionally, these findings add to the known risks of maternal smoking. Further research is needed to understand the mechanism underlying the risk posed by maternal lifetime smoking and PTE on offspring smoking behavior.


Assuntos
Efeitos Tardios da Exposição Pré-Natal , Tabagismo , Adolescente , Adulto , Feminino , Humanos , Estudos Longitudinais , Personalidade/genética , Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/genética , Fatores de Risco , Fumar/efeitos adversos , Fumar/genética , Tabagismo/epidemiologia , Tabagismo/genética , Adulto Jovem
10.
Brain Behav ; 10(12): e01897, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33070477

RESUMO

OBJECTIVES: Cloninger developed the three-dimensional personality theory and Tridimensional Personality Questionnaire (TPQ), which shows that some dimensions of personality traits are heritable and related to neurotransmitters including dopamine. glutathione peroxidase 1 (GPx1) plays an important role in metabolic dopamine change and closely relates to neurological and psychiatric disorders. The impact of GPx-1 polymorphisms has been rarely explored in the field of personality traits. We decide to explore the relationships between them in healthy Chinese-Han subjects by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). METHODS: In our study, 493 healthy Chinese-Han participants (male = 234, female = 259) were recruited. 2 ml of EDTA-treated blood from each volunteer was taken; meanwhile, personality traits were assessed by TPQ. We detected the genotypes of selected two polymorphisms through PCR-RFLP after extracting DNA. Finally, the association between different genotypes and TPQ scores was performed using SPSS, p < .05 is seen as significant statistical significance. RESULTS: Our data found a correlation between rs1800668 and novelty seeking (NS) subscale NS2 (X2  = 7.392, p = .025). While the results showed the rs1050450 was significantly associated with NS4 (X2  = 6.059, p = .048). Regarding sex stratification, there was a significant difference in the NS2 score (X2  = 8.232, p = .016) among women for rs1800668. No sex effect was observed for either genotype for rs1050450. CONCLUSION: GPx-1polymorphism is related to personality traits in healthy Chinese-Han subjects. Our results suggested that GPx-1 may be involved in the biological mechanisms and be a potential gene that influenced personality.


Assuntos
Personalidade , Polimorfismo Genético , China , Feminino , Genótipo , Glutationa Peroxidase/genética , Humanos , Masculino , Personalidade/genética , Glutationa Peroxidase GPX1
11.
Horm Behav ; 126: 104841, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32828797

RESUMO

BACKGROUND: In a previously specified sample of 421 healthy subjects, we found associations of a common oxytocin receptor (OXTR) polymorphism with self-reported trait empathy. In this study, we used this sample to explore polymorphisms in other genes which have been frequently linked to empathic behavior for associations with self-reported trait empathy: CD38 (CD38), involved in oxytocin secretion, the serotonin transporter (SLC6A4), the Catechol-O-Methyltransferase (COMT) and the corticotropin releasing hormone receptor 1 (CRHR1). METHODS: We genotyped our sample for the following common polymorphisms: rs3796863 in the CD38 gene, 5-HTTLPR in the SLC6A4 gene, rs4680 in the COMT gene and rs242924 in the CRHR1 gene. Dispositional empathy was tested using Davis' Interpersonal Reactivity Index (IRI). We used a Bonferroni corrected alpha level of p = 0.002 to adjust for multiple comparisons. RESULTS: None of the genotypes were associated with any of the IRI scales for the complete sample (n = 421) or for the sub-groups of male (n = 213) and female (n = 190) participants. Our sample of 421 participants achieved 95% power to detect effects greater than r = ±0.18. For smaller effects, however, false negatives could not be rejected with equal confidence as false positives. CONCLUSIONS: We conclude that an association between the four polymorphisms with trait empathy measured by the IRI may not be present. We propose that the associations that have been found in other studies can be largely explained by differences in empathy-related constructs and measurements.


Assuntos
Empatia/genética , Polimorfismo de Nucleotídeo Único , Habilidades Sociais , ADP-Ribosil Ciclase 1/genética , Adolescente , Adulto , Idoso , Catecol O-Metiltransferase/genética , Feminino , Estudos de Associação Genética , Genótipo , Voluntários Saudáveis , Humanos , Relações Interpessoais , Masculino , Glicoproteínas de Membrana/genética , Pessoa de Meia-Idade , Personalidade/genética , Fenótipo , Característica Quantitativa Herdável , Receptores de Hormônio Liberador da Corticotropina/genética , Receptores de Ocitocina/genética , Autorrelato , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Adulto Jovem
12.
Neuropsychopharmacology ; 45(5): 761-769, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31918432

RESUMO

Aggression and callous, uncaring, and unemotional (CU) traits are clinically related behavioral constructs caused by genetic and environmental factors. We performed polygenic risk score (PRS) analyses to investigate shared genetic etiology between aggression and these three CU-traits. Furthermore, we studied interactions of PRS with smoking during pregnancy and childhood life events in relation to CU-traits. Summary statistics for the base phenotype were derived from the EAGLE-consortium genome-wide association study of children's aggressive behavior and were used to calculate individual-level genome-wide and gene-set PRS in the NeuroIMAGE target-sample. Target phenotypes were 'callousness', 'uncaring', and 'unemotional' sumscores of the Inventory of Callous-Unemotional traits. A total of 779 subjects and 1,192,414 single-nucleotide polymorphisms were available for PRS-analyses. Gene-sets comprised serotonergic, dopaminergic, glutamatergic, and neuroendocrine signaling pathways. Genome-wide PRS showed evidence of association with uncaring scores (explaining up to 1.59% of variance; self-contained Q = 0.0306, competitive-P = 0.0015). Dopaminergic, glutamatergic, and neuroendocrine PRS showed evidence of association with unemotional scores (explaining up to 1.33, 2.00, and 1.20% of variance respectively; self-contained Q-values 0.037, 0.0115, and 0.0473 respectively, competitive-P-values 0.0029, 0.0002, and 0.0045 respectively). Smoking during pregnancy related to callousness scores while childhood life events related to both callousness and unemotionality. Moreover, dopaminergic PRS appeared to interact with childhood life events in relation to unemotional scores. Our study provides evidence suggesting shared genetic etiology between aggressive behavior and uncaring, and unemotional CU-traits in children. Gene-set PRS confirmed involvement of shared glutamatergic, dopaminergic, and neuroendocrine genetic variation in aggression and CU-traits. Replication of current findings is needed.


Assuntos
Agressão/fisiologia , Transtorno da Conduta/genética , Dopamina/genética , Ácido Glutâmico/genética , Sistemas Neurossecretores/fisiologia , Personalidade/genética , Adolescente , Adulto , Experiências Adversas da Infância/psicologia , Criança , Pré-Escolar , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Herança Multifatorial , Fenótipo , Polimorfismo de Nucleotídeo Único , Gravidez , Efeitos Tardios da Exposição Pré-Natal/psicologia , Fatores de Risco , Serotonina/genética , Fumar/efeitos adversos , Adulto Jovem
13.
J Neurosci ; 39(13): 2562-2572, 2019 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-30718321

RESUMO

Impulsive personality traits are complex heritable traits that are governed by frontal-subcortical circuits and are associated with numerous neuropsychiatric disorders, particularly drug abuse and attention-deficit/hyperactivity disorder (ADHD). In collaboration with the genetics company 23andMe, we performed 10 genome-wide association studies on measures of impulsive personality traits [the short version of the UPPS-P Impulsive Behavior Scale, and the Barratt Impulsiveness Scale (BIS-11)] and drug experimentation (the number of drug classes an individual had tried in their lifetime) in up to 22,861 male and female adult human research participants of European ancestry. Impulsive personality traits and drug experimentation showed single nucleotide polymorphism heritabilities that ranged from 5 to 11%. Genetic variants in the CADM2 locus were significantly associated with UPPS-P Sensation Seeking (p = 8.3 × 10-9, rs139528938) and showed a suggestive association with Drug Experimentation (p = 3.0 × 10-7, rs2163971; r2 = 0.68 with rs139528938). Furthermore, genetic variants in the CACNA1I locus were significantly associated with UPPS-P Negative Urgency (p = 3.8 × 10-8; rs199694726). The role of these genes was supported by single variant, gene- and transcriptome-based analyses. Multiple subscales from both UPPS-P and BIS showed strong genetic correlations (>0.5) with Drug Experimentation and other substance use traits measured in independent cohorts, including smoking initiation, and lifetime cannabis use. Several UPPS-P and BIS subscales were genetically correlated with ADHD (rg = 0.30-0.51), supporting their validity as endophenotypes. Our findings demonstrate a role for common genetic contributions to individual differences in impulsivity. Furthermore, our study is the first to provide a genetic dissection of the relationship between different types of impulsive personality traits and various psychiatric disorders.SIGNIFICANCE STATEMENT Impulsive personality traits (IPTs) are heritable traits that are governed by frontal-subcortical circuits and are associated with neuropsychiatric disorders, particularly substance use disorders. We have performed genome-wide association studies of IPTs to identify regions and genes that account for this heritable variation. IPTs and drug experimentation were modestly heritable (5-11%). We identified an association between single nucleotide polymorphisms in CADM2 and both sensation seeking and drug experimentation; and between variants in CACNA1I and negative urgency. The role of these genes was supported by single variant, gene- and transcriptome-based analyses. This study provides evidence that impulsivity can be genetically separated into distinct components. We showed that IPT are genetically associated with substance use and ADHD, suggesting impulsivity is an endophenotype contributing to these psychiatric conditions.


Assuntos
Canais de Cálcio Tipo T/genética , Moléculas de Adesão Celular/genética , Usuários de Drogas/estatística & dados numéricos , Comportamento Impulsivo/fisiologia , Personalidade/genética , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-Idade , Peptídeos , Testes de Personalidade , Polimorfismo de Nucleotídeo Único , População Branca/genética
14.
Psychol Med ; 49(13): 2197-2205, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-30355388

RESUMO

BACKGROUND: Despite the well-documented association between smoking and personality traits such as neuroticism and extraversion, little is known about the potential causal nature of these findings. If it were possible to unpick the association between personality and smoking, it may be possible to develop tailored smoking interventions that could lead to both improved uptake and efficacy. METHODS: Recent genome-wide association studies (GWAS) have identified variants robustly associated with both smoking phenotypes and personality traits. Here we use publicly available GWAS summary statistics in addition to individual-level data from UK Biobank to investigate the link between smoking and personality. We first estimate genetic overlap between traits using LD score regression and then use bidirectional Mendelian randomisation methods to unpick the nature of this relationship. RESULTS: We found clear evidence of a modest genetic correlation between smoking behaviours and both neuroticism and extraversion. We found some evidence that personality traits are causally linked to certain smoking phenotypes: among current smokers each additional neuroticism risk allele was associated with smoking an additional 0.07 cigarettes per day (95% CI 0.02-0.12, p = 0.009), and each additional extraversion effect allele was associated with an elevated odds of smoking initiation (OR 1.015, 95% CI 1.01-1.02, p = 9.6 × 10-7). CONCLUSION: We found some evidence for specific causal pathways from personality to smoking phenotypes, and weaker evidence of an association from smoking initiation to personality. These findings could be used to inform future smoking interventions or to tailor existing schemes.


Assuntos
Fumar Cigarros/genética , Fumar Cigarros/psicologia , Extroversão Psicológica , Neuroticismo , Personalidade/genética , Bases de Dados Genéticas , Humanos , Análise da Randomização Mendeliana , Abandono do Hábito de Fumar , Reino Unido
15.
Schizophr Bull ; 44(6): 1350-1361, 2018 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-29294133

RESUMO

New methods in genetics research, such as linkage disequilibrium score regression (LDSR), quantify overlap in the common genetic variants that influence diverse phenotypes. It is becoming clear that genetic effects often cut across traditional diagnostic boundaries. Here, we introduce genetic correlation analysis (using LDSR) to a nongeneticist audience and report transdisciplinary discoveries about schizophrenia. This analytical study design used publically available genome wide association study (GWAS) data from approximately 1.5 million individuals. Genetic correlations between schizophrenia and 172 medical, psychiatric, personality, and metabolomic phenotypes were calculated using LDSR, as implemented in LDHub in order to identify known and new genetic correlations. Consistent with previous research, the strongest genetic correlation was with bipolar disorder. Positive genetic correlations were also found between schizophrenia and all other psychiatric phenotypes tested, the personality traits of neuroticism and openness to experience, and cigarette smoking. Novel results were found with medical phenotypes: schizophrenia was negatively genetically correlated with serum citrate, positively correlated with inflammatory bowel disease, and negatively correlated with BMI, hip, and waist circumference. The serum citrate finding provides a potential link between rare cases of schizophrenia (strongly influenced by 22q11.2 deletions) and more typical cases of schizophrenia (with polygenic influences). Overall, these genetic correlation findings match epidemiological findings, suggesting that common variant genetic effects are part of the scaffolding underlying phenotypic comorbidity. The "genetic correlation profile" is a succinct report of shared genetic effects, is easily updated with new information (eg, from future GWAS), and should become part of basic disease knowledge about schizophrenia.


Assuntos
Síndrome da Deleção 22q11/genética , Transtorno Bipolar/genética , Fumar Cigarros/genética , Ácido Cítrico/sangue , Estudo de Associação Genômica Ampla , Doenças Inflamatórias Intestinais/genética , Desequilíbrio de Ligação/genética , Herança Multifatorial/genética , Personalidade/genética , Esquizofrenia/genética , Humanos , Esquizofrenia/sangue
16.
Sci Rep ; 7: 44528, 2017 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-28300147

RESUMO

Group-level properties, such as collective movements or decisions, can be considered an outcome of the interplay between individual behavior and social interactions. However, the respective influences of individual preferences and social interactions are not evident. In this research, we study the implications of behavioral variability on the migration dynamics of a group of gregarious insects (Periplaneta americana) subjected to two different disturbance regimes (one without disturbances and another one with high frequency of disturbances). The results indicate that individuals presented consistent behavior during the nighttime (active phase of cockroaches) in both conditions. Moreover, we used a modeling approach to test the role of personality during the migration process. The model considers identical individuals (no personality) without memory and no direct inter-attraction between individuals. The agreement between theoretical and experimental results shows that behavioral variability play a secondary role during migration dynamics. Our results showing individual personality during the nighttime (spontaneous decision to forage) but not during the emigration process (induced by environmental disturbances) highlight the plasticity of personality traits.


Assuntos
Comportamento Animal/fisiologia , Baratas/fisiologia , Movimento/fisiologia , Personalidade/fisiologia , Animais , Baratas/genética , Personalidade/genética , Comportamento Social
17.
Artigo em Russo | MEDLINE | ID: mdl-27456903

RESUMO

AIM: The present research examines the association between two basic dimensions of personality and genes of inflammatory cytokines and mediators reported to be elevated in schizophrenia and affective disorders. Genes of interleukin-1B (IL-1B), interleukin-6 (IL-6), tumor necrosis factor alpha (TNF-α), C-reactive protein (CRP) and alpha 1-antitrypsin (A1AT) were studied. MATERIAL AND METHODS: A total of 639 healthy subjects, aged from 17 to 69 years, participated in the study. The following polymorphisms were genotyped: IL-1B С-511Т (rs16944) and С3954Т (rs1143634), IL-6 G-174C (rs1800795), TNF-α G-308A (rs1800629), CRP (rs279452), A1AT 374G/A (rs709932). Basic personality dimensions Extraversion and Neuroticism were assessed using the Eysenck Personality Inventory. RESULTS AND CONCLUSION: The levels of Extraversion and Neuroticism were not associated with IL-1B, IL-6, TNF-α G and CRP polymorphisms. The association between the A1AT 374G/A polymorphism and Extraversion (р=0.036) was shown. There was a trend towards the association between the A1AT 374G/A polymorphism and Neuroticism (p=0,05) in women. Because this is the first study of the effect of IL-1B, IL-6, TNF-α and A1AT on personality dimensions, the results should be considered as preliminary and need to be replicated.


Assuntos
Inflamação/genética , Personalidade/genética , Adolescente , Adulto , Idoso , Alelos , Proteína C-Reativa/genética , Feminino , Genótipo , Humanos , Interleucina-6/genética , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Fator de Necrose Tumoral alfa/genética , Adulto Jovem , alfa 1-Antitripsina/genética
18.
Biomed Res Int ; 2016: 5282160, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26989686

RESUMO

Ten to twenty percent of patients with total knee arthroplasty (TKA) are dissatisfied with their clinical outcome. Aim of this study was to investigate the impact of personality traits on the subjective outcome of TKA. We investigated 80 patients with 86 computer navigated TKAs. We asked for patients satisfaction and divided patients into two groups (satisfied or dissatisfied). 12 personality traits were tested by the Freiburg Personality Inventory (FPI-R). Postoperative examination included Knee Society Score (KSS), Western Ontario and McMaster University Osteoarthritis Index (WOMAC), and the Visual Analogue Scale (VAS). Radiologic investigation was done in all patients. 84% of our patients were satisfied, while 16% were not satisfied. The FPI-R showed statistical significant influence of four personality traits on patient satisfaction: life satisfaction (p = 0.006), performance orientation (p = 0.015), somatic distress (p = 0.001), and emotional stability (p = 0.002). All clinical scores (VAS, WOMAC, and KSS) showed significantly better results in the satisfied patient. Radiological examination showed optimal alignment of all TKAs. There were no complications requiring revision surgery. The results of our study show that personality traits may influence patients satisfaction and clinical outcome after TKA. Therefore patients personality traits may be a useful predictive factor for postoperative satisfaction after TKA.


Assuntos
Artroplastia do Joelho/psicologia , Osteoartrite do Joelho/fisiopatologia , Determinação da Personalidade , Personalidade/fisiologia , Idoso , Idoso de 80 Anos ou mais , Artroplastia do Joelho/efeitos adversos , Feminino , Humanos , Prótese do Joelho , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/psicologia , Osteoartrite do Joelho/cirurgia , Medição da Dor , Satisfação do Paciente , Personalidade/genética , Qualidade de Vida , Inquéritos e Questionários , Resultado do Tratamento
19.
Int J Geriatr Psychiatry ; 31(5): 502-9, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26343804

RESUMO

OBJECTIVES: Recent research has linked psychological (personality) factors and specific genetic risk polymorphisms to performance on neurocognitive phenotypes. We examined whether episodic or semantic memory performance is associated with (a) three personality traits (i.e. neuroticism, extraversion, and openness to experience), (b) two neurodegenerative-related polymorphisms (i.e. Apolipoprotein E (APOE; rs7412; rs429358), Clusterin (CLU; rs11136000)), and (c) cross-domain risk interactions (magnification effects). METHODS: Linear growth models were examined to test independent associations between personality traits and declarative memory performance, and potential interaction effects with APOE and CLU genetic risk. Normal older adults (n = 282) with personality and genetic data from the Victoria Longitudinal Study were included at baseline and for up to 14 years of follow-up. RESULTS: First, we observed that higher openness to experience levels were associated with better episodic and semantic memory. Second, three significant gene × personality interactions were associated with poorer memory performance at baseline. These synergistic effects are: (a) APOE allelic risk (ε4+) carriers with lower openness to experience levels, (b) CLU (no risk: T/T) homozygotes with higher extraversion levels, and (c) CLU (no risk: T/T) homozygotes with lower neuroticism levels. CONCLUSIONS: Specific neurodegenerative-related genetic polymorphisms (i.e. APOE and CLU) moderate and magnify the risk contributed by selected personality trait levels (i.e. openness to experience, extraversion) on declarative memory performance in non-demented aging. Future research could target interactions of other personality traits and genetic polymorphisms in different clinical populations to predict other neurocognitive deficits or transitions to cognitive impairment and dementia.


Assuntos
Apolipoproteínas E/genética , Clusterina/genética , Memória/fisiologia , Personalidade/genética , Adulto , Idoso , Envelhecimento/genética , Envelhecimento/fisiologia , Transtornos de Ansiedade/genética , Extroversão Psicológica , Feminino , Humanos , Modelos Lineares , Estudos Longitudinais , Masculino , Memória Episódica , Pessoa de Meia-Idade , Doenças Neurodegenerativas/genética , Testes Neuropsicológicos , Neuroticismo , Polimorfismo Genético , Fatores de Risco
20.
Eur Neuropsychopharmacol ; 26(1): 150-155, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26612384

RESUMO

Harm avoidance is a personality trait characterized by excessive worrying and fear of uncertainty, which has repeatedly been related to anxiety disorders. Converging lines of research in rodents and humans point towards an involvement of the nicotinic cholinergic system in the modulation of anxiety. Most notably, the rs1044396 polymorphism in the CHRNA4 gene, which codes for the α4 subunit of the nicotinic acetylcholine receptor, has been linked to negative emotionality traits including harm avoidance in a recent study. Against this background, we investigated the association between harm avoidance and the rs1044396 polymorphism using data from N=1673 healthy subjects, which were collected in the context of the German multi-centre study ׳Genetics of Nicotine Dependence and Neurobiological Phenotypes׳. Homozygous carriers of the C-allele showed significantly higher levels of harm avoidance than homozygous T-allele carriers, with heterozygous subjects exhibiting intermediate scores. The effect was neither modulated by age or gender nor by smoking status. By replicating previous findings in a large population-based sample for the first time, the present study adds to the growing evidence suggesting an involvement of nicotinic cholinergic mechanism in anxiety and negative emotionality, which may pose an effective target for medical treatment.


Assuntos
Redução do Dano , Polimorfismo de Nucleotídeo Único , Receptores Nicotínicos/genética , Adulto , Feminino , Estudos de Associação Genética , Alemanha , Humanos , Masculino , Personalidade/genética , Fumar/genética
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