A body of research suggests that autistic individuals are less likely to drink alcohol than neurotypicals. However, emerging studies support a link between autism and alcohol use. This complex relationship is also reflected in studies that have examined the genetic overlap between the two traits. However, it is unclear whether there is a direct causal relationship between them. To explore this, we applied a combination of polygenic score and Mendelian randomisation analyses using publicly available genome-wide summary statistics and phenotypic measures of autism and alcohol consumption from UK Biobank. LD score regression analyses did not provide evidence of a genetic correlation between genetic liability for autism and drinks consumed per week (rg=-0.08; CI95%=-0.19, 0.03). Further, findings from polygenic score analyses did not support an association between genetic liability for autism and overall monthly alcohol intake. Univariable Mendelian randomisation analyses showed little evidence for a total effect of autism, attention deficit hyperactivity disorder (ADHD) or depression on overall monthly alcohol consumption. Multivariable Mendelian randomisation analyses also showed little evidence of a direct effect of autism on drinks per week when controlling for ADHD and depression. It is plausible that genetic liability for autism does not directly increase the amount of alcohol consumed but instead operates via commonly co-occurring difficulties in the autistic community. However, our findings may be due to methodological shortcomings, including weak instruments biasing effects towards to the null. Consequently, results should be interpreted with caution and further research conducted to address these issues.
S. Page, K. Easey, F. Sedgewick et al.· medRxiv· 0 citations
Open data has been promoted as a tool to improve the transparency, robustness, and efficiency of scientific research. However, the perspectives of participant communities, particularly those who are marginalised, are often overlooked in discussions around open data. This paper examines, for the first time, the views of autistic adults and parents of autistic people regarding open data practices in autism research. Thirty interviews were conducted, which considered participants’ views on different degrees of openness of research data, and the factors that would influence their level of comfort with their and/or their child’s data being shared. Pre-registered reflexive thematic analysis that interrogated power dynamics in the participants’ statements led to the development of two themes: (1) Narratives of, and created by, Research, and (2) Vulnerability and Risk in Research Participation. These themes reflected how the impacts of open data were experienced both individually and collectively. Participants acknowledged the potential benefits of open data for knowledge generation and improving services, but also expressed concerns about misuse, re-identification, and harmful narratives from secondary researchers that they had not engaged with. The findings highlight the importance of meaningful engagement with participant communities to ensure ethical and transparent open data practices, and for researchers to ensure that they make participants fully aware about the nature of the data sharing agreements they are entering (using genuinely accessible information documents). These insights have relevance and applicability to not only autism research, but also any scholarship involving marginalised populations making decisions about open data.
