A kombinatív képesség rövid távú fejleszthetősége 3. évfolyamon természettudományos kontextusban

Musical aptitude is commonly measured using tasks that involve discrimination of different types of musical auditory stimuli. Performance on such different discrimination tasks correlates positively with each other and with intelligence. However, no study to date has explored these associations using a genetically informative sample to estimate underlying genetic and environmental influences. In the present study, a large sample of Swedish twins (N=10,500) was used to investigate the genetic architecture of the associations between intelligence and performance on three musical auditory discrimination tasks (rhythm, melody and pitch). Phenotypic correlations between the tasks ranged between 0.23 and 0.42 (Pearson r values). Genetic modelling showed that the covariation between the variables could be explained by shared genetic influences. Neither shared, nor non-shared environment had a significant effect on the associations. Good fit was obtained with a two-factor model where one underlying shared genetic factor explained all the covariation between the musical discrimination tasks and IQ, and a second genetic factor explained variance exclusively shared among the discrimination tasks. The results suggest that positive correlations among musical aptitudes result from both genes with broad effects on cognition, and genes with potentially more specific influences on auditory functions

A genome-wide association study of self-rated health

Self-rated health questions have been proven to be a highly reliable and valid measure of overall health as measured by other indicators in many population groups. It also has been shown to be a very good predictor of mortality, chronic or severe diseases, and the need for services, and is positively correlated with clinical assessments. Genetic factors have been estimated to account for 25-64% of the variance in the liability of self-rated health. The aim of the present study was to identify Single Nucleotide Polymorphisms (SNPs) underlying the heritability of self-rated health by conducting a genome-wide association analysis in a large sample of 6,706 Australian individuals aged 18-92. No genome wide significant SNPs associated with self-rated health could be identified, indicating that self-rated health may be influenced by a large number of SNPs with very small effect size. A very large sample will be needed to identify these SNPs

IGEMS : The Consortium on Interplay of Genes and Environment Across Multiple Studies - An Update

The Interplay of Genes and Environment across Multiple Studies (IGEMS) is a consortium of 18 twin studies from 5 different countries (Sweden, Denmark, Finland, United States, and Australia) established to explore the nature of gene-environment (GE) interplay in functioning across the adult lifespan. Fifteen of the studies are longitudinal, with follow-up as long as 59 years after baseline. The combined data from over 76,000 participants aged 14-103 at intake (including over 10,000 monozygotic and over 17,000 dizygotic twin pairs) support two primary research emphases: (1) investigation of models of GE interplay of early life adversity, and social factors at micro and macro environmental levels and with diverse outcomes, including mortality, physical functioning and psychological functioning; and (2) improved understanding of risk and protective factors for dementia by incorporating unmeasured and measured genetic factors with a wide range of exposures measured in young adulthood, midlife and later life.Peer reviewe

The establishment of the GENEQOL consortium to investigate the genetic disposition of patient-reported quality-of-life outcomes

To our knowledge, no comprehensive, interdisciplinary initiatives have been taken to examine the role of genetic variants on patient-reported quality-of-life outcomes. The overall objective of this paper is to describe the establishment of an international and interdisciplinary consortium, the GENEQOL Consortium, which intends to investigate the genetic disposition of patient-reported quality-of-life outcomes. We have identified five primary patient-reported quality-of-life outcomes as initial targets: negative psychological affect, positive psychological affect, self-rated physical health, pain, and fatigue. The first tangible objective of the GENEQOL Consortium is to develop a list of potential biological pathways, genes and genetic variants involved in these quality-of-life outcomes, by reviewing current genetic knowledge. The second objective is to design a research agenda to investigate and validate those genes and genetic variants of patient-reported quality-of-life outcomes, by creating large datasets. During its first meeting, the Consortium has discussed draft summary documents addressing these questions for each patient-reported quality-of-life outcome. A summary of the primary pathways and robust findings of the genetic variants involved is presented here. The research agenda outlines possible research objectives and approaches to examine these and new quality-of-life domains. Intriguing questions arising from this endeavor are discussed. Insight into the genetic versus environmental components of patient-reported quality-of-life outcomes will ultimately allow us to explore new pathways for improving patient care. If we can identify patients who are susceptible to poor quality of life, we will be able to better target specific clinical interventions to enhance their quality of life and treatment outcome

1 Personality Polygenes, Positive Affect, and Life Satisfaction

Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizesPeer reviewe

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

Very few genetic variants have been associated with depression and neuroticism, likely because of limitations on sample size in previous studies. Subjective well-being, a phenotype that is genetically correlated with both of these traits, has not yet been studied with genome-wide data. We conducted genome-wide association studies of three phenotypes: subjective well-being (n = 298,420), depressive symptoms (n = 161,460), and neuroticism (n = 170,911). We identify 3 variants associated with subjective well-being, 2 variants associated with depressive symptoms, and 11 variants associated with neuroticism, including 2 inversion polymorphisms. The two loci associated with depressive symptoms replicate in an independent depression sample. Joint analyses that exploit the high genetic correlations between the phenotypes (|ρ^| ≈ 0.8) strengthen the overall credibility of the findings and allow us to identify additional variants. Across our phenotypes, loci regulating expression in central nervous system and adrenal or pancreas tissues are strongly enriched for association.</p

Genetic influences on quality of life throughout the life span: Genetic and environmental influences on the variation in and covariation among traits related to quality of life throughout life time and in the aged.

Quality of Life (QoL) throughout lifetime is characterised by good mental and somatic functioning. The burden of mental and somatic disorders has a large economic impact on society which, in addition to the predicted increase in the ageing population over the next decades, merits research towards wellbeing throughout life and especially in the aged. In recent years it has been shown that QoL measures can be superior to more objective clinical assessments for predicting disease and mortality risk, leading to the incorporation of an individual’s subjective experience of QoL into medical research and the development of validated self-reported QoL measures. Lately, the idea of predicting future QoL (in terms of mental and somatic health) based on an individual’s personality traits has received great attention and with it the hope of developing intervention strategies, decreasing negative affect leading to a better health outcome. Although both, personality and QoL, have been shown to be partly heritable, there is little research on the genetic architecture underlying the personality-QoL link. Where does the truth about QoL throughout lifetime and its relationship to personality lie – mostly in the genes or in the environment? The present thesis aimed to explore genetic and environmental influences on factors contributing to QoL and well-being throughout lifetime and in the elderly using the twin design. Before presenting the six main studies, a literature review is presented, covering relevant theory and research on the key areas of importance to this thesis, including project aims and significance. Subsequently, based on two publications on the methodology of behaviour genetics, practical aspects of implementing the research as well as measures and analytic techniques are covered. The first paper explored the genetic architecture of the relationship between optimism, mental and self-rated health, revealing moderate heritability of all three traits ranging between 34% (mental health) and 46% (self-rated health) and that most of the covariance between the traits was due to shared genetic influences. In addition, we found some strong, though not significant, indication of sex differences in the genetic aetiology in and between the three traits. The second paper was an attempt to replicate the findings of the previous study, increasing the sample size and power by including a sample of Swedish twins to explore potential sex differences in the aetiology of these traits. However, results showed that, although we found the same pattern in the Swedish sample, a strong indication for more genetic influences on variation in and covariation between the traits in females than in males, the sex differences were still non-significant. Given the relatively high correlation of neuroticism with optimism and mental health, in the next study we explored genetic and environmental influences on the relationship between neuroticism, optimism and mental health. The modelling results showed that despite neuroticism being correlated with both optimism and mental health, optimism remains a significant predictor of mental health after controlling for the mediating effects of neuroticism. However, the genetic covariation between optimism and mental health could entirely be explained by a set of genes shared with neuroticism, indicating that the predictive value of optimism for mental health is solely due to non-shared environmental influences once neuroticism is controlled for. The fourth paper investigated the relationship between personality and mortality revealing a significant relationship between optimism, extraversion, psychoticism and longevity while neuroticism and social desirability showed no relationship with all-cause mortality. We also explored the personality-mortality link on the genetic level, finding some indication for genetic influences on these associations. The fifth study aimed to find specific genes underlying QoL. As Self-rated health not only showed the highest heritability estimate of the QoL-related traits explored here, but also has been shown to be a good indicator of QoL, we established a consortium aiming for a large Genome-Wide Association Study (GWAS) Meta-Analysis on self-rated health. The study presented here was a preliminary GWAS on more than 7000 Australian twins. Results showed that no SNPs reached genome-wide significance, indicating that self-rated health may be influenced by a large number of SNPs with small effect size. Hope remains that the meta-analysis including data from more than 12 countries will have enough power to identify at least some of these SNPs. The sixth and last study solely focused on the interrelation between traits/disorders falling under the mental health domain of QoL. By exploring the genetic aetiology of the comorbidity between three anxiety disorders and Major Depression we could show large genetic overlap between these disorders, emphasizing the importance of thorough exploration of the environmental as well as genetic aetiology of mental disorders before categorization in disease manuals. Finally, a synthesis of the key findings of each study is presented including a discussion of potential limitations of the research. This section also provides a critical assessment of the implications of the present findings as well as future research in this field