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Dyslexia is a learning difficulty with neurodevelopmental origins, manifesting as reduced accuracy and speed in reading and spelling. It is substantially heritable and frequently co-occurs with other neurodevelopmental conditions, particularly attention deficit-hyperactivity disorder (ADHD). Here, we investigate the genetic structure underlying dyslexia and a range of psychiatric traits using results from genome-wide association studies of dyslexia, ADHD, autism, anorexia nervosa, anxiety, bipolar disorder, major depressive disorder, obsessive compulsive disorder, schizophrenia, and Tourette syndrome. Genomic Structural Equation Modelling (GenomicSEM) showed heightened support for a model consisting of five correlated latent genomic factors described as: F1) compulsive disorders (including obsessive-compulsive disorder, anorexia nervosa, Tourette syndrome), F2) psychotic disorders (including bipolar disorder, schizophrenia), F3) internalising disorders (including anxiety disorder, major depressive disorder), F4) neurodevelopmental traits (including autism, ADHD), and F5) attention and learning difficulties (including ADHD, dyslexia). ADHD loaded more strongly on the attention and learning difficulties latent factor (F5) than on the neurodevelopmental traits latent factor (F4). The attention and learning difficulties latent factor (F5) was positively correlated with internalising disorders (.40), neurodevelopmental traits (.25) and psychotic disorders (.17) latent factors, and negatively correlated with the compulsive disorders (-.16) latent factor. These factor correlations are mirrored in genetic correlations observed between the attention and learning difficulties latent factor and other cognitive, psychological and wellbeing traits. We further investigated genetic variants underlying both dyslexia and ADHD, which implicated 49 loci (40 not previously found in GWAS of the individual traits) mapping to 174 genes (121 not found in GWAS of individual traits) as potential pleiotropic variants. Our study confirms the increased genetic relation between dyslexia and ADHD versus other psychiatric traits and uncovers novel pleiotropic variants affecting both traits. In future, analyses including additional co-occurring traits such as dyscalculia and dyspraxia will allow a clearer definition of the attention and learning difficulties latent factor, yielding further insights into factor structure and pleiotropic effects.
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[This corrects the article DOI: 10.1371/journal.pone.0258910.].
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Dyslexia and pain have recently been shown to correlate on a genetic level, but there has been little exploration of this association on the phenotypic level despite reports of increased pain in Attention Deficit Hyperactivity Disorder, which commonly co-occurs with dyslexia. In this study we test for an association between reading ability, which is the primary feature of dyslexia, and pain both in childhood and adulthood. Logistic regression modeling was used to test associations between reading ability in childhood and pain from childhood to midlife in a large UK birth cohort; the 1958 National Child Development Study. Associations were found between poor childhood reading ability and increased headache and abdominal pain in childhood, and between poor childhood reading ability and headache, eye pain, back pain, and rheumatism in adulthood. Mediation analyses indicated that socioeconomic status (defined by employment) fully mediated the association between poor reading ability in childhood and back pain at age 42. By contrast, the association between reading ability and eye pain acted independently of socioeconomic status. Different mechanisms were thus indicated for the association of reading with different pain types, including manual labor and a potential shared biological pathway. PERSPECTIVE: This study found a relationship between poor reading ability in childhood and pain in childhood and adulthood. Those with reading difficulties should be monitored for pain symptoms. Future research may uncover shared biological mechanisms, increasing our understanding of pain and potential treatments.
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Dislexia , Leitura , Humanos , Masculino , Feminino , Criança , Adulto , Dislexia/fisiopatologia , Adolescente , Adulto Jovem , Dor/fisiopatologia , Reino Unido/epidemiologia , Dor Ocular/fisiopatologia , Dor Ocular/etiologia , Coorte de NascimentoRESUMO
Relational models theory predicts that social relationships are formed from four underlying psychological models: communal sharing, authority ranking, equality matching, and market pricing. Here, in four studies, we test this four-factor model using the 33-item Modes of Relationships Questionnaire (MORQ). In Study 1, we administered the MORQ to N = 347 subjects. A parallel analysis supported the four-factor structure, but several items failed to load on their predicted target factors. In Study 2 (N = 617), we developed a well-fitting four-factor model of the MORQ with a total of 20 items (five items retained for each factor). This model replicated across multiple relationships reported by each subject. In Study 3, we replicated the model in an independent dataset (N = 615). A general factor associated with relationship type was required in both Study 2 and Study 3. In Study 4, we tested the nature of this general factor, finding that it was associated with the closeness of the relationship. The results support the Relational Models four-factor structure of social relationships. Given the mature theory and applications in a wide range of disciplines, from social to organisational psychology, we hope that this compact, valid, and interpretable instrument leads to increased usage of the scale.
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Processos Grupais , Relações Interpessoais , Humanos , Inquéritos e Questionários , Reprodutibilidade dos Testes , PsicometriaRESUMO
Reading difficulties are prevalent worldwide, including in economically developed countries, and are associated with low academic achievement and unemployment. Longitudinal studies have identified several early childhood predictors of reading ability, but studies frequently lack genotype data that would enable testing of predictors with heritable influences. The National Child Development Study (NCDS) is a UK birth cohort study containing direct reading skill variables at every data collection wave from age 7 years through to adulthood with a subsample (final n = 6431) for whom modern genotype data are available. It is one of the longest running UK cohort studies for which genotyped data are currently available and is a rich dataset with excellent potential for future phenotypic and gene-by-environment interaction studies in reading. Here, we carry out imputation of the genotype data to the Haplotype Reference Panel, an updated reference panel that offers greater imputation quality. Guiding phenotype choice, we report a principal components analysis of nine reading variables, yielding a composite measure of reading ability in the genotyped sample. We include recommendations for use of composite scores and the most reliable variables for use during childhood when conducting longitudinal, genetically sensitive analyses of reading ability.
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Desenvolvimento Infantil , Cognição , Humanos , Pré-Escolar , Estudos de Coortes , Genótipo , Fenótipo , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.
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Dislexia , Estudo de Associação Genômica Ampla , Criança , Adulto , Humanos , Dislexia/genética , Dislexia/psicologia , Leitura , Idioma , Povo AsiáticoRESUMO
We support Uchiyama et al. in the value of genetics, sample diversification, and context measurement. Against the example of vitamins, we highlight the intransigence of many phenotypes. We caution that while culture can mask genetic differences, the dependence of behaviour on genetics is reinvented and unmasked by novel challenges across generations.
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The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10-8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.
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Estudo de Associação Genômica Ampla , Individualidade , Leitura , Fala , Adolescente , Adulto , Criança , Pré-Escolar , Loci Gênicos , Humanos , Idioma , Polimorfismo de Nucleotídeo Único , Adulto JovemRESUMO
Mutualism-the disposition to cooperate in ways that benefit both actor and recipient-has been proposed as a key construct in the evolution of cooperation, with distinct adaptations for 1) partner choice, 2) division, 3) punishment, and 4) helping. However, no psychological validation of this 4-fold psychological structure exists, and no measure of the trait is available. To fill this need, in two pre-registered studies (total N = 902), we: (A) Develop and administer items assessing each of the four mutualist adaptations; (B) Show good fit to the predicted four factor model; (C) Demonstrate reliability and stability across time; (D) Evidence discriminant validity from existing constructs, including compassion and utilitarianism; (E) Establish external validity by predicting proportional choices in catch division, opposition to partner coercion, and reduced support for redistribution; and (F) Replicate each of these findings. Jointly, these results support the validity of mutualism, including a motive to maintain the freedom to choose, and provide reliable scales for use in integrating, further developing, and applying mutualism.
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Punição , Simbiose , Motivação , Reprodutibilidade dos Testes , Inquéritos e QuestionáriosRESUMO
Erikson asked what makes some people care for the future of the species and others not, calling this 'generativity vs. stagnation'. In three studies, we addressed structure of this trait and its heritability. Study 1 (N = 1570), using structural models of the Loyola Generativity Scale , revealed three correlated factors consisting of (1) Establishing and aiding the next generation; (2) Maintaining the world; and (3) Symbolic immortality through a positive legacy. Study 2 (N = 311) successfully replicated this structure in an independent UK sample. Study 3 tested genetic and environmental influences on generativity. All three factors showed significant and substantial heritable influence. A general factor was required, which was also heritable. In resolving previous uncertainty over the transmission of generativity across generations, shared environmental transmission models fit poorly. Substantial unique environmental effects suggest strong cultural impacts on concern for the species. Generativity researchers may usefully adopt this three-factor scoring system, allowing research on the predictive power of each component of generativity as well as molecular genetic or biological studies.
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Moral foundations theory posits five moral foundations, however 5-factor models provide poor fit to the data. Here, in five studies, each with large samples (total N = 11,496), we construct and replicate a well-fitting model of the Moral Foundations Questionnaire (MFQ). In study 1 (N = 2,271) we tested previously theorised models, confirming none provide adequate fit. We then developed a well-fitting model of the MFQ. In this model, the fairness/reciprocity and harm/care foundations were preserved intact. The binding foundations, however, divided into five, rather than the original three foundations. Purity/sanctity split into independent foundations of purity and sanctity. Similarly, Ingroup/loyalty divided into independent factors of loyalty to clan and loyalty to country. Authority/respect was re-focussed on hierarchy, losing one item to the new sanctity foundation and another into loyalty to country. In addition to these 7 foundations, higher-level factors of binding and individualizing were supported, along with a general/acquiescence factor. Finally, a "moral tilt" factor corresponding to coordinated left-leaning vs. right-leaning moral patterns was supported. We validated the model in four additional studies, testing replication of the 7-foundation model in data including from US, Australia, and China (total N = 9,225). The model replicated with good fit found in all four samples. These findings demonstrate the first well-fitting replicable model of the MFQ. They also highlight the importance of modelling measurement structure, and reveal important additional foundations, and structure (binding, individualizing, tilt) above the foundations.
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Modelos Estruturais , Princípios Morais , Teoria Ética , Humanos , Psicometria , Inquéritos e QuestionáriosRESUMO
Recounts how our collaboration with Nick Martin was shaped over two decades, leading to the first studies of predictions from the 'Dual Route Cascaded' computational model of reading in twins, and extending into the molecular work, first linkage, fine mapping of genes identified in pedigree studies, into now the genomewide association study era and the first polygenic risk scores for reading and their potential in early clarifying causality and validating interventions, as well as for future global collaborations in improving these predictors and identifying causal variants. We highlight Nick's warm, future-focused optimism, support and inclusive approach without which none of this would have been possible. The circle of Nick asking, over half a century ago, 'What genes do you think make some kids get better grades?' has built a diverse scientific legacy involving thousands of papers and collaborations. The (heritable) traits of curiosity, boldness, warmth, interest in societally important questions, openness to new methods, ambition and collaborative skill to bring into being the infrastructure and samples needed for this research are rare, and we are grateful.
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Dislexia/história , Estudo de Associação Genômica Ampla/história , Estudos em Gêmeos como Assunto/história , Gêmeos/genética , Dislexia/genética , História do Século XX , História do Século XXI , Humanos , Idioma , Linhagem , Polimorfismo de Nucleotídeo Único/genética , LeituraRESUMO
With climate change and its consequences believed to be among the most vital challenges for humanity and the Earth's ecosystem, it is important to understand why individuals do or do not adopt proenvironmental attitudes and behaviors. Personality traits are well suited for this purpose. Because no recent work has systematically combined the accumulating evidence on this topic, we aimed to meta-analyze the associations of the Big Five and HEXACO personality domains with proenvironmental attitudes and behaviors. A meta-analysis of 38 sources (N = 44,993) implicated openness and honesty-humility as the strongest correlates of proenvironmental attitudes (r = .22 and .20) and behaviors (r = .21 and .25). Agreeableness, conscientiousness, and, to a lesser extent, extraversion were also associated with proenvironmental attitudes (r = .15, .12, and .09) and behaviors (r = .10, .11, and .10). Heterogeneity among effect sizes was partly explained by samples' gender ratio, age, and country of origin and by the personality model. P-curve analyses, funnel plots, and Egger's tests indicated significant but sporadic and small publication bias. As a validity test, the meta-analytic associations collectively provided substantial predictive accuracy for proenvironmental attitudes (r = .44-.45) and behaviors (r = .28-.43) in independent holdout samples.
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Atitude , Conservação dos Recursos Naturais , Personalidade/fisiologia , Comportamento Social , HumanosRESUMO
Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7-73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.
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Dislexia/genética , Fatores de Transcrição Forkhead/genética , Transtornos do Desenvolvimento da Linguagem/genética , Adulto , Idoso , Aptidão , Austrália , Axônios/metabolismo , Axônios/fisiologia , Estudos de Coortes , Feminino , Fatores de Transcrição Forkhead/metabolismo , Fatores de Transcrição Forkhead/fisiologia , Estudos de Associação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Neurônios/metabolismo , Neurônios/fisiologia , Fonética , Polimorfismo de Nucleotídeo Único , Leitura , FalaRESUMO
Mindset theory predicts that a growth mindset can substantially improve children's resilience to failure and enhance important outcomes such as school grades. We tested these predictions in a series of studies of 9-13-year-old Chinese children (n = 624). Study 1 closely replicated Mueller and Dweck (1998). Growth mindset manipulation was associated with performance on a moderate difficulty postfailure test (p = .049), but not with any of the 8 motivation and attribution measures used by Mueller and Dweck (1998): mean p = .48. Studies 2 and 3 included an active control to distinguish effects of mindset from other aspects of the manipulation, and included a challenging test. No effect of the classic growth mindset manipulation was found for either moderate or more difficult material in either Study 2 or Study 3 (ps = .189 to .974). Compatible with these null results, children's mindsets were unrelated to resilience to failure for either outcome measure (ps = .673 to .888). The sole exception was a significant effect in the reverse direction to prediction found in Study 2 for resilience on more difficult material (p = .007). Finally, in 2 studies relating mindset to grades across a semester in school, the predicted association of growth mindset with improved grades was not supported. Neither was there any association of children's mindsets with their grades at the start of the semester. Beliefs about the malleability of basic ability may not be related to resilience to failure or progress in school. (PsycINFO Database Record (c) 2019 APA, all rights reserved).
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Sucesso Acadêmico , Cognição , Motivação , Prática Psicológica , Adolescente , Criança , China , Feminino , Humanos , Masculino , Instituições AcadêmicasRESUMO
BACKGROUND AND AIMS: The non-medical use of over-the-counter or prescribed analgesics (NMUA) is a significant public health problem. Little is known about the genetic and environmental etiology of NMUA and how these risks relate to other classes of substance use and misuse. Our aims were to estimate the heritability NMUA and sources of genetic and environmental covariance with cannabis and nicotine use, cannabis and alcohol use disorders and nicotine dependence in Australian twins. DESIGN: Biometrical genetic analyses or twin methods using structural equation univariate and multivariate modeling. SETTING: Australia. PARTICIPANTS: A total of 2007 young adult twins [66% female; µage = 25.9, standard deviation (SD) = 3.6, range = 18-38] from the Brisbane Longitudinal Twin Study retrospectively assessed between 2009 and 2016. MEASUREMENTS: Self-reported NMUA (non-opioid or opioid-based), life-time nicotine, cannabis and opioid use, DSM-V cannabis and alcohol use disorders and the Fagerström Test for Nicotine Dependence. FINDINGS: Life-time NMUA was reported by 19.4% of the sample. Univariate heritability explained 46% [95% confidence interval (CI) = 0.29-0.57] of the risks in NMUA. Multivariate analyses revealed that NMUA is moderately associated genetically with cannabis (rg = 0.41) and nicotine (rg = 0.45) use and nicotine dependence (rg = 0.34). In contrast, the genetic correlations with cannabis (rg = 0.15) and alcohol (rg = 0.07) use disorders are weak. CONCLUSIONS: In young male and female adults in Australia, the non-medical use of over-the-counter or prescribed analgesics appears to have moderate heritability. NMUA is moderately associated with cannabis and nicotine use and nicotine dependence. Its genetic etiology is largely distinct from that of cannabis and alcohol use disorders.
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Analgésicos/administração & dosagem , Uso Indevido de Medicamentos , Uso Indevido de Medicamentos sob Prescrição , Transtornos Relacionados ao Uso de Substâncias/genética , Adolescente , Adulto , Alcoolismo/genética , Austrália/epidemiologia , Cannabis/genética , Feminino , Interação Gene-Ambiente , Predisposição Genética para Doença/epidemiologia , Humanos , Análise de Classes Latentes , Estudos Longitudinais , Masculino , Nicotina/genética , Estudos Retrospectivos , Fatores de Risco , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Tabagismo/genética , Adulto JovemRESUMO
The aim of this study was to examine whether phonemic decoding skill (deficits of which characterize dyslexia) shares genetic and/or environmental covariance with scholastic abilities independent of general intelligence. Non-word reading ability, verbal and non-verbal IQ, and standardized academic achievement (Queensland Core Skills Test; QCST) were measured in Australian twins (up to 876 twin pairs and 80 singleton twins). Multivariate genetic analysis showed the presence of a general genetic factor, likely reflecting crystallized ability, which accounted for 45-76% of phenotypic variance in QCST scores, 62% of variance in Verbal IQ, 23% of variance in Performance IQ, and 19% of variance in phonological reading ability. The phonemic decoding genetic factor (explaining 48% of variance in phonemic decoding) was negatively associated with mathematical achievement scores (0.4%). Shared effects of common environment did not explain the relationship between reading ability and academic achievement beyond those also influencing IQ. The unique environmental reading factor (accounting for 26% of variance) influenced academic abilities related to written expression. Future research will need to address whether these reading-specific genetic and unique environment relationships arise from causal effects of reading on scholastic abilities, or whether both share a common influence, such as pleiotropic genes/environmental factors.
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Structural equation modeling (SEM) is an important research tool, both for path-based model specification (common in the social sciences) and also for matrix-based models (in heavy use in behavior genetics). We developed umx to give more immediate access, relatively concise syntax and helpful defaults for users in these two broad disciplines. umx supports development, modification and comparison of models, as well as both graphical and tabular outputs. The second major focus of umx, behavior genetic models, is supported via functions implementing standard multigroup twin models. These functions support raw and covariance data, including joint ordinal data, and give solutions for ACE models, including support for covariates, common- and independent-pathway models, and gene × environment interaction models. A tutorial site and question forum are also available.
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Modelos Genéticos , Software , Gêmeos/genética , Feminino , Humanos , MasculinoRESUMO
We recently reported an association of offspring educational attainment with polygenic risk scores (PRS) computed on parent's non-transmitted alleles for educational attainment using the second GWAS meta-analysis article on educational attainment published by the Social Science Genetic Association Consortium. Here we test the replication of these findings using a more powerful PRS from the third GWAS meta-analysis article by the Consortium. Each of the key findings of our previous paper is replicated using this improved PRS (N = 2335 adolescent twins and their genotyped parents). The association of children's attainment with their own PRS increased substantially with the standardized effect size, moving from ß = 0.134, 95% CI = 0.079, 0.188 for EA2, to ß = 0.223, 95% CI = 0.169, 0.278, p < .001, for EA3. Parent's PRS again predicted the socioeconomic status (SES) they provided to their offspring and increased from ß = 0.201, 95% CI = 0.147, 0.256 to ß = 0.286, 95% CI = 0.239, 0.333. Importantly, the PRS for alleles not transmitted to their offspring - therefore acting via the parenting environment - was increased in effect size from ß = 0.058, 95% CI = 0.003, 0.114 to ß = 0.067, 95% CI = 0.012, 0.122, p = .016. As previously found, this non-transmitted genetic effect was fully accounted for by parental SES. The findings reinforce the conclusion that genetic effects of parenting are substantial, explain approximately one-third the magnitude of an individual's own genetic inheritance and are mediated by parental socioeconomic competence.