140 research outputs found
Terrace Standard, October, 22, 2003
Sex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require sex-stratified analysis, and in clinical practice sex-specific treatments would be warranted. Here, we present a study of 2,335,920 twin pairs, in which we tested sex differences in genetic and environmental contributions to variation in 2,608 reported human traits, clustered in 50 trait categories. Monozygotic and dizygotic male and female twin correlations were used to test whether the amount of genetic and environmental influences was equal between the sexes. By comparing dizygotic opposite sex twin correlations with dizygotic same sex twin correlations we could also test whether sex-specific genetic or environmental factors were involved. We observed for only 3% of all trait categories sex differences in the amount of etiological influences. Sex-specific genetic factors were observed for 25% of trait categories, often involving obviously sex-dependent trait categories such as puberty-related disorders. Our findings show that for most traits the number of sex-specific genetic variants will be small. For those traits where we do report sexual dimorphism, sex-specific approaches may aid in future gene-finding efforts
What Twin Studies Tell Us About the Heritability of Brain Development, Morphology, and Function: A Review
The development of brain structure and function shows large inter-individual variation. The extent to which this variation is due to genetic or environmental influences has been investigated in twin studies using structural and functional Magnetic Resonance Imaging (MRI). The current review presents an overview of twin studies using MRI in children, adults and elderly, and focuses on cross-sectional and longitudinal designs. The majority of the investigated brain measures are heritable to a large extent (60–80 %), although spatial differences in heritability are observed as well. Cross-sectional studies suggest that heritability estimates slightly increase from childhood to adulthood. Long-term longitudinal studies are better suited to study developmental changes in heritability, but these studies are limited. Results so far suggest that the heritability of change over time is relatively low or absent, but more studies are needed to confirm these findings. Compared to brain structure, twin studies of brain function are scarce, and show much lower heritability estimates (~40 %). The insights from heritability studies aid our understanding of individual differences in brain structure and function. With the recent start of large genetic MRI consortia, the chance of finding genes that explain the heritability of brain morphology increases. Gene identification may provide insight in biological mechanisms involved in brain processes, which in turn will learn us more about healthy and disturbed brain functioning
Heritability of Stroop and flanker performance in 12-year old children
BACKGROUND: There is great interest in appropriate phenotypes that serve as indicator of genetically transmitted frontal (dys)function, such as ADHD. Here we investigate the ability to deal with response conflict, and we ask to what extent performance variation on response interference tasks is caused by genetic variation. We tested a large sample of 12-year old monozygotic and dizygotic twins on two well-known and closely related response interference tasks; the color Stroop task and the Eriksen flanker task. Using structural equation modelling we assessed the heritability of several performance indices derived from those tasks. RESULTS: In the Stroop task we found high heritabilities of overall reaction time and – more important – Stroop interference (h(2 )= nearly 50 %). In contrast, we found little evidence of heritability on flanker performance. For both tasks no effects of sex on performance variation were found. CONCLUSIONS: These results suggest that normal variation in Stroop performance is influenced by underlying genetic variation. Given that Stroop performance is often hampered not only in people suffering from frontal dysfunction, but also in their unaffected relatives, we conclude that this variable may constitute a suitable endophenotype for future genetic studies. We discuss several reasons for the absence of genetic effects on the flanker task
Analisa Pembayaran Pajak Dan Persepsi Penghasilan Menurut Wajib Pajak Orang Pribadi Yang Membayar Persepuluhan
Penelitian ini bertujuan untuk mengetahui persepsi penghasilan menurut Wajib Pajak Orang Pribadi yang membayar persepuluhan. Penelitian ini dilakukan dengan melihat definisi penghasilan menurut Wajib Pajak melalui pembayaran persepuluhan yang dilakukannya, karena pembayaran persepuluhan didasari oleh pemikiran masing-masing individu terkait apa saja yang termasuk dalam penghasilan (self-defined income). Jumlah responden yang digunakan dalam penelitian ini adalah 30 Wajib Pajak Orang Pribadi di Surabaya yang menganut agama Kristen. Teknik analisa yang digunakan adalah metode sequential explanatory design, yang diawali dengan analisa kuantitatif menggunakan Uji Beda Dua Kelompok dan kemudian dilanjutkan dengan analisa kualitatif.Hasil penelitian menunjukkan bahwa Wajib Pajak cenderung memiliki persepsi bahwa yang termasuk dalam definisi penghasilan adalah penerimaan kas, yang diukur dengan jumlah total kas yang diterima dalam suatu periode tertentu. Kemudian juga ditemukan bahwa tidak terdapat perbedaan antara pembayaran persepuluhan yang dilakukan oleh Wajib Pajak dengan pembayaran Pajak Penghasilan, yang artinya bahwa perilaku pembayaran Pajak Penghasilan dilakukan sesuai dengan persepsi penghasilan menurut Wajib Pajak. Dari analisa kualitatif dalam penelitian ini, ditemukan bahwa persepsi Wajib Pajak terkait dengan praktek perpajakan di Indonesia juga berperan dalam pembayaran pajak yang dilakukan oleh Wajib Pajak
Exploring the genetic correlations of antisocial behaviour and life history traits.
UNLABELLED: Prior evolutionary theory provided reason to suspect that measures of development and reproduction would be correlated with antisocial behaviours in human and non-human species. Behavioural genetics has revealed that most quantitative traits are heritable, suggesting that these phenotypic correlations may share genetic aetiologies. We use genome-wide association study data to estimate the genetic correlations between various measures of reproductive development (N = 52 776-318 863) and antisocial behaviour (N = 31 968). Our genetic correlation analyses demonstrate that alleles associated with higher reproductive output (number of children ever born, r g = 0.50, P = 0.0065) were positively correlated with alleles associated with antisocial behaviour, whereas alleles associated with more delayed reproductive onset (age at first birth, r g = -0.64, P = 0.0008) were negatively associated with alleles linked to antisocial behaviour. Ultimately, these findings coalesce with evolutionary theories suggesting that increased antisocial behaviours may partly represent a faster life history approach, which may be significantly calibrated by genes. DECLARATION OF INTEREST: None
Conditional accuracy in response interference tasks: Evidence from the Eriksen flanker task and the spatial conflict task
Two well-known response interference tasks are the Eriksen flanker task and the
spatial conflict task. The tasks are logically equivalent, and comparable
effects of current and previous stimulus type (congruent or incongruent) have
been shown with regard to reaction time (RT). Here, we investigated whether
interference and sequential trial effects also had comparable effects on
accuracy. We specifically tested whether these effects interacted with the speed
of responding using conditional accuracy functions (CAFs). The CAFs revealed
that in both tasks congruency and sequential trial effects on accuracy are found
only in trials with fast responses (< 600 ms). Sequential trial effects
on accuracy were weaker for the flanker task than for the spatial conflict task.
In very fast trials (< 400 ms) response activation by distracting
flankers led to below-chance performance in the flanker task, but response
activation by incongruent spatial location did not lead to below-chance
performance in the spatial conflict task. The pattern of results hints at subtle
differences in processing architecture between the tasks
Psychiatric Polygenic Risk Scores as Predictor for Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in a Clinical Child and Adolescent Sample
Neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are highly heritable and influenced by many single nucleotide polymorphisms (SNPs). SNPs can be used to calculate individual polygenic risk scores (PRS) for a disorder. We aim to explore the association between the PRS for ADHD, ASD and for Schizophrenia (SCZ), and ADHD and ASD diagnoses in a clinical child and adolescent population. Based on the most recent genome wide association studies of ADHD, ASD and SCZ, PRS of each disorder were calculated for individuals of a clinical child and adolescent target sample (N = 688) and for adult controls (N = 943). We tested with logistic regression analyses for an association with (1) a single diagnosis of ADHD (N = 280), (2) a single diagnosis of ASD (N = 295), and (3) combining the two diagnoses, thus subjects with either ASD, ADHD or both (N = 688). Our results showed a significant association of the ADHD PRS with ADHD status (OR 1.6, P = 1.39 × 10−07) and with the combined ADHD/ASD status (OR 1.36, P = 1.211 × 10−05), but not with ASD status (OR 1.14, P = 1). No associations for the ASD and SCZ PRS were observed. In sum, the PRS of ADHD is significantly associated with the combined ADHD/ASD status. Yet, this association is primarily driven by ADHD status, suggesting disorder specific genetic effects of the ADHD PRS
The Association of Gender, Age, and Intelligence With Neuropsychological Functioning in Young Typically Developing Children: The Generation R Study
2016 Copyrigh
Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene–gene interaction on working memory functioning.
The COMT Va
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
<p>Abstract</p> <p>Background</p> <p>The <it>CHRM2 </it>gene, located on the long arm of chromosome 7 (7q31-35), is involved in neuronal excitability, synaptic plasticity and feedback regulation of acetylcholine release, and has been implicated in higher cognitive processing. The aim of this study is the identification of functional (non)coding variants underlying cognitive phenotypic variation.</p> <p>Methods</p> <p>We previously reported an association between polymorphisms in the 5'UTR regions of the <it>CHRM2 </it>gene and intelligence.. However, no functional variants within this area have currently been identified. In order to identify the relevant functional variant(s), we conducted a denser coverage of SNPs, using two independent Dutch cohorts, consisting of a children's sample (N = 371 ss; mean age 12.4) and an adult sample (N= 391 ss; mean age 37.6). For all individuals standardized intelligence measures were available. Subsequently, we investigated genotype-dependent <it>CHRM2 </it>gene expression levels in the brain, to explore putative enhancer/inhibition activity exerted by variants within the muscarinic acetylcholinergic receptor.</p> <p>Results</p> <p>Using a test of within-family association two of the previously reported variants – rs2061174, and rs324650 – were again strongly associated with intelligence (<it>P </it>< 0.01). A new SNP (rs2350780) showed a trend towards significance. SNP rs324650, is located within a short interspersed repeat (SINE). Although the function of short interspersed repeats remains contentious, recent research revealed potential functionality of SINE repeats in a gene-regulatory context. Gene-expression levels in post-mortem brain material, however were not dependent on rs324650 genotype.</p> <p>Conclusion</p> <p>Using a denser coverage of SNPs in the <it>CHRM2 </it>gene, we confirmed the 5'UTR regions to be most interesting in the context of intelligence, and ruled out other regions of this gene. Although no correlation between genomic variants and gene expression was found, it would be interesting to examine allele-specific effects on CHRM2 transcripts expression in much more detail, for example in relation to transcripts specific halve-life and their relation to LTP and memory.</p
- …