Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe

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viii. 420 hal.; 30 c

An exploratory study of situated conceptions of learning and learning environments.

This paper describes a study designed to test whether situated conceptions of learning can be measured using questionnaires, and the relations between these aspects of students’ awareness, their awareness of other environmental variables, and their learning outcomes. A situated conception of learning is one that is evoked and adopted by students in response to their perceptions of their learning tasks in a particular context. It may reflect the aims they have for their studies, once they have started that study and experienced that study environment. The results from this small-scale, limited-context study showed that when students perceived the learning environment as being more supportive of learning, they were more likely to describe a situated conception of learning that was more closely aligned with those promoted by the University. They also had higher scores on the deep approach to learning scale, lower scores on the surface approach scale, and expected to leave university with a higher degree classification. These associations, which suggest that situated conceptions, like prior experience of learning, may be a crucial indicator of learning approach and outcomes of learning, are sufficiently large to warrant more rigorous investigations