From traits to disorders. Investigating autistic-like traits using a multi-level approach
Keywords
No Thumbnail Available
Authors
Issue Date
2019-02-11
Language
en
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Autism spectrum disorder (ASD) is a common and genetically complex neurodevelopmental disorder. This represents the extreme manifestation of autistic-like traits (ALTs) that continuously occur in the general population. Genetic overlap exists between ALTs and ASD, suggesting that genetic research on ALTs may shed light on the genetics of ASD as well. On these premises, this study comprehensively investigated autistic-like traits measured in a total of 4600 individuals. Specifically, we addressed the four ALT attention-to-detail, imagination, rigidity, and social skills and we implemented multiple levels of analysis to characterize the genetic, biological and neural nature of these ALTs. We found two novel variants (rs6125844; rs3731197) significantly associated with attention-to-detail (p < 5e-8) that are functionally related to the genes RNF114 and CDKN2A. Subsequently, we found that ASD-related gene networks controlling synaptic signalling and steroidogenesis are significantly (p < 0.05) to the ALT rigidity and social skills, respectively. Finally, we investigate the effect of identified top hits for attention-to-detail on neural connectivity. We could not find any neural network significantly associated with these variants.
Description
Citation
Supervisor
Faculty
Faculteit der Sociale Wetenschappen