Search

Background : In 1984, John Marshall made the case that one can use a model of the skilled reading system not only to interpret the acquired dyslexias, but also to interpret the developmental dyslexias, and the particular model of the skilled reading system he favoured for this purpose was the dual-route model. This claim has been a controversial one, with many researchers claiming that static models of adult skilled reading, such as the dual-route model, are inappropriate for understanding the process of reading development and, consequently, the developmental reading disorders. Aims : In this paper, we examine how Marshall's conjecture has fared over the past 20 years. Main Contribution : We evaluate Marshall's conjecture by examining evidence for developmental analogues of acquired surface and phonological dyslexia, by reporting new data on cases of 'pure' developmental surface and phonological dyslexia, and by assessing the success of dual route versus connectionist accounts of these subtypes. We also report evidence that the dual-route model of skilled reading provides an accurate account of the reading performance of children at all stages of reading development. Conclusion : We conclude that Marshall's controversial claim has been vindicated by subsequent research. [ABSTRACT FROM AUTHOR]

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., Competing Interests: Competing interests: PF and the 23andMe Research Team members are employed by and hold stock or stock options in 23andMe, Inc. All other authors declare no competing interests. Ethical approval: The study used secondary data, with all original studies stating relevant ethical approval. The secondary data analyses were approved under the Edinburgh Medical School Research Ethics Committee., (© 2024. The Author(s).)

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., (Copyright © 2024 United States Association for the Study of Pain, Inc. Published by Elsevier Inc. All rights reserved.)

Phage Culver, with a siphovirus morphology, was isolated using Gordonia terrae CAG3. Culver is assigned to phage cluster CQ1 based on gene content similarity to actinobacteriophages. Notably, Culver is predicted to encode eight tRNAs, lysin A by two adjacent genes, and, unlike other CQ1 phages, two putative integrase genes., Competing Interests: The authors declare no conflict of interest.

Over the last two decades, there have been numerous initiatives to improve undergraduate student outcomes in STEM. One model for scalable reform is the inclusive Research Education Community (iREC). In an iREC, STEM faculty from colleges and universities across the nation are supported to adopt and sustainably implement course-based research - a form of science pedagogy that enhances student learning and persistence in science. In this study, we used pathway modelling to develop a qualitative description that explicates the HHMI Science Education Alliance (SEA) iREC as a model for facilitating the successful adoption and continued advancement of new curricular content and pedagogy. In particular, outcomes that faculty realize through their participation in the SEA iREC were identified, organized by time, and functionally linked. The resulting pathway model was then revised and refined based on several rounds of feedback from over 100 faculty members in the SEA iREC who participated in the study. Our results show that in an iREC, STEM faculty organized as a long-standing community of practice leverage one another, outside expertise, and data to adopt, implement, and iteratively advance their pedagogy. The opportunity to collaborate in this manner and, additionally, to be recognized for pedagogical contributions sustainably engages STEM faculty in the advancement of their pedagogy. Here, we present a detailed pathway model of SEA that, together with underpinning features of an iREC identified in this study, offers a framework to facilitate transformations in undergraduate science education.

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., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Zakharin, Bates. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

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.

Course-based research pedagogy involves positioning students as contributors to authentic research projects as part of an engaging educational experience that promotes their learning and persistence in science. To develop a model for assessing and grading students engaged in this type of learning experience, the assessment aims and practices of a community of experienced course-based research instructors were collected and analyzed. This approach defines four aims of course-based research assessment - 1) Assessing Laboratory Work and Scientific Thinking; 2) Evaluating Mastery of Concepts, Quantitative Thinking and Skills; 3) Appraising Forms of Scientific Communication; and 4) Metacognition of Learning - along with a set of practices for each aim. These aims and practices of assessment were then integrated with previously developed models of course-based research instruction to reveal an assessment program in which instructors provide extensive feedback to support productive student engagement in research while grading those aspects of research that are necessary for the student to succeed. Assessment conducted in this way delicately balances the need to facilitate students' ongoing research with the requirement of a final grade without undercutting the important aims of a CRE education.

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., (© 2022. The Author(s).)

Arthrobacter phage Tokki is a siphovirus isolated from soil in River Falls, Wisconsin. The genome contains 57,652-bp encoding 98 proteins, of which 23 were assigned a function. Tokki's genome structure and content is typical of other AU2 subcluster phages, except for the lack of an identifiable acetyltransferase.

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.

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.

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., Competing Interests: The authors have declared that no competing interests exist.

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.

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., Competing Interests: The authors have declared that no competing interests exist.

Background: Prior studies have estimated heritability of around 0.25 for the trait of handedness, with studies of structural brain asymmetry giving estimates in a similar or lower range. Little is known about heritability of functional language lateralization. This report describes heritability estimates using functional language laterality and handedness phenotypes in a twin sample previously reported by Wilson and Bishop (2018). Methods: The total sample consisted of 194 twin pairs (49% monozygotic) aged from 6 to 11 years. A language laterality index was obtained for 141 twin pairs, who completed a protocol where relative blood flow through left and right middle cerebral arteries was measured using functional transcranial Doppler ultrasound (fTCD) while the child described animation sequences. Handedness data was available from the Edinburgh Handedness Inventory (EHI) and Quantification of Hand Preference (QHP) for all 194 pairs. Heritability was assessed using conventional structural equation modeling, assuming no effect of shared environment (AE model). Results: For the two handedness measures, heritability estimates (95% CI) were consistent with prior research: .25 (.03 - .34) and .18 (0 - .31) respectively for the EHI and QHP. For the language laterality index, however, the twin-cotwin correlations were close to zero for both MZ and DZ twins, and the heritability estimate was zero (0 - .15). Conclusions: A single study cannot rule out a genetic effect on language lateralisation. It is possible that the low twin-cotwin correlations were affected by noisy data: although the split-half reliability of the fTCD-based laterality index was high (0.85), we did not have information on test-retest reliability in children, which is likely to be lower. We cannot reject the hypothesis that there is low but nonzero heritability for this trait, but our data suggest that individual variation in language lateralisation is predominantly due to stochastic variation in neurodevelopment., Competing Interests: No competing interests were disclosed., (Copyright: © 2020 Bishop DVM and Bates TC.)

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.

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.

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.

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; μ age  = 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 (r g  = 0.41) and nicotine (r g  = 0.45) use and nicotine dependence (r g  = 0.34). In contrast, the genetic correlations with cannabis (r g  = 0.15) and alcohol (r g  = 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., (© 2019 Society for the Study of Addiction.)

Background: It is widely assumed that individual differences in language lateralisation have a strong genetic basis, yet prior studies show low heritability (around 0.25) for the related trait of handedness, and two twin studies of structural brain asymmetry obtained similarly low estimates. This report describes heritability estimates from a twin study of language laterality and handedness phenotypes. Methods: The total sample consisted of 194 twin pairs (49% monozygotic) aged from 6 to 11 years. A language laterality index was obtained for 141 twin pairs, who completed a protocol where relative blood flow through left and right middle cerebral arteries was measured using functional transcranial Doppler ultrasound (fTCD) while the child described animation sequences. Handedness data was available from the Edinburgh Handedness Inventory (EHI) and Quantification of Hand Preference (QHP) for all 194 pairs. Heritability was assessed using conventional structural equation modeling, assuming no effect of shared environment (AE model). Results: For the two handedness measures, heritability estimates were consistent with prior research: 0.23 and 0.22 respectively for the EHI and QHP. For the language laterality index, however, the twin-cotwin correlations were very close to zero for both MZ and DZ twins, and the heritability estimate was zero. Conclusions: A single study showing negligible heritability for language laterality cannot rule out a genetic effect on language lateralisation. It is possible that the low twin-cotwin correlations were affected by noisy data: although the split-half reliability of the fTCD-based laterality index was high (0.85), we did not have information on test-retest reliability in children, which is likely to be lower. We cannot rule out the possibility that true heritability of differences in language lateralization is non-zero, but results indicate that the heritability of this trait is low at best. Stochastic variation in neurodevelopment appears to play a major role in determining cerebral lateralisation., Competing Interests: No competing interests were disclosed., (Copyright: © 2019 Bishop DVM and Bates TC.)

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).

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.

Generativity-showing concern to establish and guide future generations-has been argued to be a biological adaptation central to cumulative culture and survival, but also, in turn, to be a cultural adaptation dependent on norms. From the perspective of human agency, concern for the future has played a key role in raising agency for generations that follow by creating infrastructure and cultural inheritance. Here, in a population-representative sample of 756 twin-pairs, we present the first test of the genetic and environmental structure of generativity using the Loyola Generativity Scale (short). Genetic analysis of scale sum-scores revealed that shared environmental effects were comparable in magnitude or exceeded effects estimated for genetic differences (A = 0.30 CI95 [- 0.01, 0.61], C = 0.41 [0.25, 0.56], E = 0.86 [0.79, 0.93]). At the item level, a well-fitting genetically-informed model suggested 3 factors influencing generativity via a common-pathway structure. The first was tentatively characterized as reflecting a heritable general concern for the future. The second reflected being a valued source of advice and assistance. The third factor showed only unique environment effects and had as its strongest indicator having had a good influence on the lives of others. Replicability of this structure should be tested in the full version of the scale. Work is needed also to validate influences of generativity on vocations such as teaching and on philanthropic activity improving life for subsequent generations.

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.

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 β = 0.134, 95% CI = 0.079, 0.188 for EA2, to β = 0.223, 95% CI = 0.169, 0.278, p &lt; .001, for EA3. Parent's PRS again predicted the socioeconomic status (SES) they provided to their offspring and increased from β = 0.201, 95% CI = 0.147, 0.256 to β = 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 β = 0.058, 95% CI = 0.003, 0.114 to β = 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.

A number of candidate genes for reading and language impairment have been replicated, primarily in samples of children with developmental disability or delay, although these genes are also supported in adolescent population samples. The present study used a systematic approach to test 14 of these candidate genes for association with reading assessed in late adulthood (two cohorts with mean ages of 70 and 79 years). Gene-sets (14 candidates, axon-guidance and neuron migration pathways) and individual SNPs within each gene of interest were tested for association using imputed data referenced to the 1000 genomes European panel. Using the results from the genome-wide association (GWA) meta-analysis of the two cohorts (N = 1217), a competitive gene-set analysis showed that the candidate gene-set was associated with the reading index (p = .016) at a family wise error rate corrected significance level. Neither axon guidance nor neuron migration pathways were significant. Whereas individual SNP associations within CYP19A1, DYX1C1, CNTNAP2 and DIP2A genes (p < .05) did not reach corrected significance their allelic effects were in the same direction as past available reports. These results suggest that reading skill in normal adults shares the same genetic substrate as reading in adolescents, and clinically disordered reading, and highlights the utility of adult samples to increase sample sizes in the genetic study of developmental disorders.

Background and Aims: Disentangling the putative impact of cannabis on brain morphology from other comorbid substance use is critical. After controlling for the effects of nicotine, alcohol and multi-substance use, this study aimed to determine whether frequent cannabis use is associated with significantly smaller subcortical grey matter volumes., Design: Exploratory analyses using mixed linear models, one per region of interest (ROI), were performed whereby individual differences in volume (outcome) at seven subcortical ROIs were regressed onto cannabis and comorbid substance use (predictors)., Setting: Two large population-based twin samples from the United States and Australia., Participants: A total of 622 young Australian adults [66% female; μ age  = 25.9, standard deviation SD) = 3.6] and 474 middle-aged US males (μ age  = 56.1 SD = 2.6 ) of predominately Anglo-Saxon ancestry with complete substance use and imaging data. Subjects with a history of stroke or traumatic brain injury were excluded., Measurements: Magnetic resonance imaging (MRI) and volumetric segmentation methods were used to estimate volume in seven subcortical ROIs: thalamus, caudate nucleus, putamen, pallidum, hippocampus, amygdala and nucleus accumbens. Substance use measurements included maximum nicotine and alcohol use, total life-time multi-substance use, maximum cannabis use in the young adults and regular cannabis use in the middle-aged males., Findings: After correcting for multiple testing (P = 0.007), cannabis use was unrelated to any subcortical ROI. However, maximum nicotine use was associated with significantly smaller thalamus volumes in middle-aged males., Conclusions: In exploratory analyses based on young adult and middle-aged samples, normal variation in cannabis use is unrelated statistically to individual differences in brain morphology as measured by subcortical volume., (© 2018 Society for the Study of Addiction.)

Research on environmental and genetic pathways to complex traits such as educational attainment (EA) is confounded by uncertainty over whether correlations reflect effects of transmitted parental genes, causal family environments, or some, possibly interactive, mixture of both. Thus, an aggregate of thousands of alleles associated with EA (a polygenic risk score; PRS) may tap parental behaviors and home environments promoting EA in the offspring. New methods for unpicking and determining these causal pathways are required. Here, we utilize the fact that parents pass, at random, 50% of their genome to a given offspring to create independent scores for the transmitted alleles (conventional EA PRS) and a parental score based on alleles not transmitted to the offspring (EA VP&#95;PRS). The formal effect of non-transmitted alleles on offspring attainment was tested in 2,333 genotyped twins for whom high-quality measures of EA, assessed at age 17 years, were available, and whose parents were also genotyped. Four key findings were observed. First, the EA PRS and EA VP&#95;PRS were empirically independent, validating the virtual-parent design. Second, in this family-based design, children's own EA PRS significantly predicted their EA (β = 0.15), ruling out stratification confounds as a cause of the association of attainment with the EA PRS. Third, parental EA PRS predicted the SES environment parents provided to offspring (β = 0.20), and parental SES and offspring EA were significantly associated (β = 0.33). This would suggest that the EA PRS is at least as strongly linked to social competence as it is to EA, leading to higher attained SES in parents and, therefore, a higher experienced SES for children. In a full structural equation model taking account of family genetic relatedness across multiple siblings the non-transmitted allele effects were estimated at similar values; but, in this more complex model, confidence intervals included zero. A test using the forthcoming EA3 PRS may clarify this outcome. The virtual-parent method may be applied to clarify causality in other phenotypes where observational evidence suggests parenting may moderate expression of other outcomes, for instance in psychiatry.

Impairments in reading and in language have negative consequences on life outcomes, but it is not known to what extent genetic effects influence this association. We constructed polygenic scores for difficulties with language and learning to read from genome-wide data in ~6,600 children, adolescents and young adults, and tested their association with health, socioeconomic outcomes and brain structure measures collected in adults (maximal N = 111,749). Polygenic risk of reading difficulties was associated with reduced income, educational attainment, self-rated health and verbal-numerical reasoning (p < 0.00055). Polygenic risk of language difficulties predicted income (p = 0.0005). The small effect sizes ranged 0.01-0.03 of a standard deviation, but these will increase as genetic studies for reading ability get larger. Polygenic scores for childhood cognitive ability and educational attainment were correlated with polygenic scores of reading and language (up to 0.09 and 0.05, respectively). But when they were included in the prediction models, the observed associations between polygenic reading and adult outcomes mostly remained. This suggests that the pathway from reading ability to social outcomes is not only via associated polygenic loads for general cognitive function and educational attainment. The presence of non-overlapping genetic effect is indicated by the genetic correlations of around 0.40 (childhood intelligence) and 0.70 (educational attainment) with reading ability. Mendelian randomization approaches will be important to dissociate any causal and moderating effects of reading and related traits on social outcomes.

The new software package OpenMx 2.0 for structural equation and other statistical modeling is introduced and its features are described. OpenMx is evolving in a modular direction and now allows a mix-and-match computational approach that separates model expectations from fit functions and optimizers. Major backend architectural improvements include a move to swappable open-source optimizers such as the newly written CSOLNP. Entire new methodologies such as item factor analysis and state space modeling have been implemented. New model expectation functions including support for the expression of models in LISREL syntax and a simplified multigroup expectation function are available. Ease-of-use improvements include helper functions to standardize model parameters and compute their Jacobian-based standard errors, access to model components through standard R $ mechanisms, and improved tab completion from within the R Graphical User Interface.

A core hypothesis in developmental theory predicts that genetic influences on intelligence and academic achievement are suppressed under conditions of socioeconomic privation and more fully realized under conditions of socioeconomic advantage: a Gene × Childhood Socioeconomic Status (SES) interaction. Tests of this hypothesis have produced apparently inconsistent results. We performed a meta-analysis of tests of Gene × SES interaction on intelligence and academic-achievement test scores, allowing for stratification by nation (United States vs. non-United States), and we conducted rigorous tests for publication bias and between-studies heterogeneity. In U.S. studies, we found clear support for moderately sized Gene × SES effects. In studies from Western Europe and Australia, where social policies ensure more uniform access to high-quality education and health care, Gene × SES effects were zero or reversed., (© The Author(s) 2015.)

Two themes are emerging regarding the molecular genetic aetiology of intelligence. The first is that intelligence is influenced by many variants and those that are tagged by common single nucleotide polymorphisms account for around 30% of the phenotypic variation. The second, in line with other polygenic traits such as height and schizophrenia, is that these variants are not randomly distributed across the genome but cluster in genes that work together. Less clear is whether the very low range of cognitive ability (intellectual disability) is simply one end of the normal distribution describing individual differences in cognitive ability across a population. Here, we examined 40 genes with a known association with non-syndromic autosomal recessive intellectual disability (NS-ARID) to determine if they are enriched for common variants associated with the normal range of intelligence differences. The current study used the 3511 individuals of the Cognitive Ageing Genetics in England and Scotland (CAGES) consortium. In addition, a text mining analysis was used to identify gene sets biologically related to the NS-ARID set. Gene-based tests indicated that genes implicated in NS-ARID were not significantly enriched for quantitative trait loci (QTL) associated with intelligence. These findings suggest that genes in which mutations can have a large and deleterious effect on intelligence are not associated with variation across the range of intelligence differences.

Optimism and pessimism are associated with important outcomes including health and depression. Yet it is unclear if these apparent polar opposites form a single dimension or reflect two distinct systems. The extent to which personality accounts for differences in optimism/pessimism is also controversial. Here, we addressed these questions in a genetically informative sample of 852 pairs of twins. Distinct genetic influences on optimism and pessimism were found. Significant family-level environment effects also emerged, accounting for much of the negative relationship between optimism and pessimism, as well as a link to neuroticism. A general positive genetics factor exerted significant links among both personality and life-orientation traits. Both optimism bias and pessimism also showed genetic variance distinct from all effects of personality, and from each other.

Gene × environment (G × E) interaction studies test the hypothesis that the strength of genetic influence varies across environmental contexts. Existing latent variable methods for estimating G × E interactions in twin and family data specify parametric (typically linear) functions for the interaction effect. An improper functional form may obscure the underlying shape of the interaction effect and may lead to failures to detect a significant interaction. In this article, we introduce a novel approach to the behavior genetic toolkit, local structural equation modeling (LOSEM). LOSEM is a highly flexible nonparametric approach for estimating latent interaction effects across the range of a measured moderator. This approach opens up the ability to detect and visualize new forms of G × E interaction. We illustrate the approach by using LOSEM to estimate gene × socioeconomic status interactions for six cognitive phenotypes. Rather than continuously and monotonically varying effects as has been assumed in conventional parametric approaches, LOSEM indicated substantial nonlinear shifts in genetic variance for several phenotypes. The operating characteristics of LOSEM were interrogated through simulation studies where the functional form of the interaction effect was known. LOSEM provides a conservative estimate of G × E interaction with sufficient power to detect statistically significant G × E signal with moderate sample size. We offer recommendations for the application of LOSEM and provide scripts for implementing these biometric models in Mplus and in OpenMx under R.

Neuroticism is associated with cardiovascular disease, autonomic reactivity, and depression. Here we address the extent to which neuroticism accounts for the excess heart disease risk associated with depression and test whether cardiac autonomic tone plays a role as mediator. Subjects were derived from a nationally representative sample (n = 1,255: mean age 54.5, SD = 11.5). Higher neuroticism was associated with reduced heart rate variability equally under rest and stress. The baseline structural equation model revealed significant paths from neuroticism to heart rate variability, cardiovascular disease and depression, and between depression and cardiovascular disease, controlling for age, sex, height, weight, and BMI. Dropping both the neuroticism to heart rate variability, and neuroticism to heart disease paths significantly reduced the model fit (p < .001 in each case). We conclude that neuroticism has independent associations with both autonomic reactivity and cardiovascular disease, over and above its associations with depression and other related variables.

Previous research has indicated that education influences cognitive development, but it is unclear what, precisely, is being improved. Here, we tested whether education is associated with cognitive test score improvements via domain-general effects on general cognitive ability (g), or via domain-specific effects on particular cognitive skills. We conducted structural equation modeling on data from a large (n = 1,091), longitudinal sample, with a measure of intelligence at age 11 years and 10 tests covering a diverse range of cognitive abilities taken at age 70. Results indicated that the association of education with improved cognitive test scores is not mediated by g, but consists of direct effects on specific cognitive skills. These results suggest a decoupling of educational gains from increases in general intellectual capacity., ((c) 2015 APA, all rights reserved).)

Greater cognitive ability in childhood is associated with increased longevity, and speedier reaction time (RT) might account for much of this linkage. Greater bodily symmetry is linked to both higher cognitive test scores and faster RTs. It is possible, then, that differences in bodily system integrity indexed by symmetry may underlie the associations of RT and intelligence with increased longevity. However, RT and symmetry have seldom been examined in the same study, and never in children. Here, in 2 large samples aged 4 to 15 (combined n = 856), we found that more symmetrical children had significantly faster mean choice RT and less variability in RT. These associations of faster and less variable RT with greater symmetry early in life raise the possibility that the determinants of longevity in part originate in processes influencing bodily system integrity early in the life-course., ((c) 2015 APA, all rights reserved).)

Evidence from twin studies points to substantial environmental influences on intelligence, but the specifics of this influence are unclear. This study examined one developmental process that potentially causes intelligence differences: learning to read. In 1,890 twin pairs tested at 7, 9, 10, 12, and 16 years, a cross-lagged monozygotic-differences design was used to test for associations of earlier within-pair reading ability differences with subsequent intelligence differences. The results showed several such associations, which were not explained by differences in reading exposure and were not restricted to verbal cognitive domains. The study highlights the potentially important influence of reading ability, driven by the nonshared environment, on intellectual development and raises theoretical questions about the mechanism of this influence., (© 2014 The Authors. Child Development published by Wiley Periodicals, Inc. on behalf of Society for Research in Child Development.)

Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a genome-wide association scan (GWAS) meta-analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading- and language-related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P ≈ 10(-7) for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on-going international efforts to identify genes contributing to reading and language skills., (© 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd.)

Research has shown that in-group favoritism is associated with concerns over the maintenance of social norms. Here we present two studies examining whether genetic factors underpin this association. A classical twin design was used to decompose phenotypic variance into genetic and environmental components in two studies. Study 1 used 812 pairs of adult U.S. twins from the nationally representative MIDUS II sample. Study 2 used 707 pairs of middle-age twins from the Minnesota Twin Registry. In-group favoritism was measured with scales tapping preferences for in-group (vs. out-group) individuals; norm concerns were measured with the Multidimensional Personality Questionnaire-Traditionalism (Study 1) and Right-Wing Authoritarianism (RWA; Study 2) scales. In Study 1, heritable effects underlying traditionalism were moderately (c. 35%) overlapping with the genetic variance underpinning in-group favoritism. In Study 2, heritable influences on RWA were entirely shared with the heritable effects on in-group favoritism. Moreover, we observed that Big Five Openness shared common genetic links to both RWA and in-group favoritism. These results suggest that, at the genetic level, in-group favoritism is linked with a system related to concern over normative social practices, which is, in turn, partially associated with trait Openness., (© 2013 Wiley Periodicals, Inc.)

Studies of the effect of alcohol consumption on cognitive ability are often confounded. One approach to avoid confounding is the Mendelian randomization design. Here, we used such a design to test the hypothesis that a genetic score for alcohol processing capacity moderates the association between alcohol consumption and lifetime change in cognitive ability. Members of the Lothian Birth Cohort 1936 completed the same test of intelligence at age 11 and 70 years. They were assessed for recent alcohol consumption in later life and genotyped for a set of four single-nucleotide polymorphisms in three alcohol dehydrogenase genes. These variants were unrelated to late-life cognition or to socioeconomic status. We found a significant gene × alcohol consumption interaction on lifetime cognitive change (p = 0.007). Individuals with higher genetic ability to process alcohol showed relative improvements in cognitive ability with more consumption, whereas those with low processing capacity showed a negative relationship between cognitive change and alcohol consumption with more consumption. The effect of alcohol consumption on cognitive change may thus depend on genetic differences in the ability to metabolize alcohol.

Eudaimonic well-being reflects traits concerned with personal growth, self-acceptance, purpose in life and autonomy (among others) and is a substantial predictor of life events, including health. Although interest in the aetiology of eudaimonic well-being has blossomed in recent years, little is known of the underlying neural substrates of this construct. To address this gap in our knowledge, here we examined whether regional gray matter (GM) volume was associated with eudaimonic well-being. Structural magnetic resonance images from 70 young, healthy adults who also completed Ryff's 42-item measure of the six core facets of eudaimonia, were analysed with voxel-based morphometry techniques. We found that eudaimonic well-being was positively associated with right insular cortex GM volume. This association was also reflected in three of the sub-scales of eudaimonia: personal growth, positive relations and purpose in life. Positive relations also showed a significant association with left insula volume. No other significant associations were observed, although personal growth was marginally associated with left insula, and purpose in life exhibited a marginally significant negative association with middle temporal gyrus GM volume. These findings are the first to our knowledge linking eudaimonic well-being with regional brain structure.

Human facial attractiveness and facial sexual dimorphism (masculinity-femininity) are important facets of mate choice and are hypothesized to honestly advertise genetic quality. However, it is unclear whether genes influencing facial attractiveness and masculinity-femininity have similar, opposing, or independent effects across sex, and the heritability of these phenotypes is poorly characterized. To investigate these issues, we assessed facial attractiveness and facial masculinity-femininity in the largest genetically informative sample (n = 1,580 same- and opposite-sex twin pairs and siblings) to assess these questions to date. The heritability was ~0.50-0.70 for attractiveness and ~0.40-0.50 for facial masculinity-femininity, indicating that, despite ostensible selection on genes influencing these traits, substantial genetic variation persists in both. Importantly, we found evidence for intralocus sexual conflict, whereby alleles that increase masculinity in males have the same effect in females. Additionally, genetic influences on attractiveness were shared across the sexes, suggesting that attractive fathers tend to have attractive daughters and attractive mothers tend to have attractive sons.