811 research outputs found

    A kombinatív képesség rövid távú fejleszthetősége 3. évfolyamon természettudományos kontextusban

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    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

    Population Inference with Mortality and Attrition in Longitudinal Studies on Aging: A Two-Stage Multiple Imputation Method

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    First paragraph: Although there are numerous challenges for the investigation of aging-related changes in older adults, statistical analysis with incomplete data and the conceptualization of population processes related to mortality is one of the most difficult. Selective attrition and mortality selection within longitudinal studies on aging are intrinsically related to many aging-related changes and must be carefully considered in the analysis and interpretation of results (e.g., Baltes, 1968; Hofer & Sliwinski, 2006; Schaie, Labouvie, & Barrett, 1973). A key distinction is made between attrition (i.e., selective dropout) and mortality selection (i.e., selective survival) in that attrition affects characteristics of the particular sample under investigation, whereas mortality selection affects both the definition of the population as well as the sample under study (Baltes, 1968). Including time-to-death as a predictor in models for estimating change in outcomes of interest permits conditional inferences to defined populations based on age and survival (and their interaction) and is easily performed when complete data are available for both chronological age and age of death. In most studies, however, complete data for all individuals are not currently available and may not be available for a substantial period of time. The purpose of the current work is to present a two-stage multiple-imputation approach for treating mortality and attrition as distinct processes leading to incomplete data and which permit the use of time-to-death in the predictive models when follow-up is incomplete

    Latent class analysis of functional somatic symptoms in a population-based sample of twins

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    This study aimed to investigate empirically how and in what way individuals with symptoms of functional somatic syndromes should be classified. We also aimed to look into genetic and environmental influences on the classification

    MAOA haplotypes associated with thrombocyte-MAO activity

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    BACKGROUND: The aim was to ascertain whether thrombocyte MAO (trbc-MAO) activity and depressed state are genetically associated with the MAO locus on chromosome X (Xp11.3 – 11.4). We performed novel sequencing of the MAO locus and validated genetic variants found in public databases prior to constructing haplotypes of the MAO locus in a Swedish sample (N = 573 individuals). RESULTS: Our results reveal a profound SNP desert in the MAOB gene. Both the MAOA and MAOB genes segregate as two distinct LD blocks. We found a significant association between two MAOA gene haplotypes and reduced trbc-MAO activity, but no association with depressed state. CONCLUSION: The MAO locus seems to have an effect on trbc-MAO activity in the study population. The findings suggest incomplete X-chromosome inactivation at this locus. It is plausible that a gene-dosage effect can provide some insight into the greater prevalence of depressed state in females than males

    Gene Expression in Peripheral Blood Leukocytes in Monozygotic Twins Discordant for Chronic Fatigue: No Evidence of a Biomarker

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    Background: Chronic fatiguing illness remains a poorly understood syndrome of unknown pathogenesis. We attempted to identify biomarkers for chronic fatiguing illness using microarrays to query the transcriptome in peripheral blood leukocytes. Methods: Cases were 44 individuals who were clinically evaluated and found to meet standard international criteria for chronic fatigue syndrome or idiopathic chronic fatigue, and controls were their monozygotic co-twins who were clinically evaluated and never had even one month of impairing fatigue. Biological sampling conditions were standardized and RNA stabilizing media were used. These methodological features provide rigorous control for bias resulting from case-control mismatched ancestry and experimental error. Individual gene expression profiles were assessed using Affymetrix Human Genome U133 Plus 2.0 arrays. Findings: There were no significant differences in gene expression for any transcript. Conclusions: Contrary to our expectations, we were unable to identify a biomarker for chronic fatiguing illness in the transcriptome of peripheral blood leukocytes suggesting that positive findings in prior studies may have resulted fro

    A genome-wide association study of the frailty index highlights brain pathways in ageing

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    Frailty is a common geriatric syndrome and strongly associated with disability, mortality and hospitalization. Frailty is commonly measured using the frailty index (FI), based on the accumulation of a number of health deficits during the life course. The mechanisms underlying FI are multifactorial and not well understood, but a genetic basis has been suggested with heritability estimates between 30 and 45%. Understanding the genetic determinants and biological mechanisms underpinning FI may help to delay or even prevent frailty. We performed a genome-wide association study (GWAS) meta-analysis of a frailty index in European descent UK Biobank participants (n = 164,610, 60–70 years) and Swedish TwinGene participants (n = 10,616, 41–87 years). FI calculation was based on 49 or 44 self-reported items on symptoms, disabilities and diagnosed diseases for UK Biobank and TwinGene, respectively. 14 loci were associated with the FI (p < 5*10−8). Many FI-associated loci have established associations with traits such as body mass index, cardiovascular disease, smoking, HLA proteins, depression and neuroticism; however, one appears to be novel. The estimated single nucleotide polymorphism (SNP) heritability of the FI was 11% (0.11, SE 0.005). In enrichment analysis, genes expressed in the frontal cortex and hippocampus were significantly downregulated (adjusted p < 0.05). We also used Mendelian randomization to identify modifiable traits and exposures that may affect frailty risk, with a higher educational attainment genetic risk score being associated with a lower degree of frailty. Risk of frailty is influenced by many genetic factors, including well-known disease risk factors and mental health, with particular emphasis on pathways in the brain

    Understanding the Relation Between Anorexia Nervosa and Bulimia Nervosa in a Swedish National Twin Sample

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    We present a bivariate twin analysis of anorexia nervosa (AN) and bulimia nervosa (BN) to determine the extent to which shared genetic and environmental factors contribute to liability to these disorders

    Sleep problems are associated with binge eating in women

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    We examined the association among current self-reported sleep problems, lifetime binge eating, and current obesity in women from the Swedish Twin study of Adults: Genes and Environment stud

    The STAGE cohort: A prospective study of tobacco use among Swedish twins

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    We investigated patterns of cigarette smoking and Swedish snus (oral smokeless tobacco) use in a population-based sample of 19,073 Swedish twins 20–47 years old who participated in the baseline assessment of a prospective study of tobacco use and cessation in 2005–2006. Age-adjusted prevalence odds ratios (POR) and 95% confidence intervals (CI ) describe the association between tobacco use and sex, after adjustment for non-independence of twin pairs. Kaplan-Meier survival methods produced cumulative incidence curves of age at initiation of tobacco use. Slightly more than half of the baseline population was female (55.2%); the mean age at interview was 33.3 (±7.2) years and did not differ by sex. Having ever smoked daily was less common among males than females (11.9% vs. 15.3%; POR=0.70 [0.64–0.77]), while having ever used snus daily was more common among males than females (31.1% vs. 4.8%; POR 11.7 [95% CI=10.6–13.1]). The median age at initiation of smoking was 15 years for both sexes; median age at onset of snus use was 15 years for males and 18 years for females. Nicotine dependence scores were higher for males than females, and for current than former smokers. Findings from this study are in contrast to our previously published report on tobacco use among 32,123 Swedish twins 42–64 years old who completed a similar survey, and reported lower rates of snus use at later ages. Patterns of tobacco use may be changing in Sweden; snus use appears to be increasing, while daily smoking appears to be decreasing in popularity among the younger Swedish twins
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