A Potential Role for the STXBP5-AS1 Gene in Adult ADHD Symptoms
A Arias-Vásquez1,2,3, A J Groffen4, S Spijker5
1Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Alejandro.AriasVasquez@radboudumc.nl.
Behavior Genetics
|January 20, 2019
Summary
Researchers identified a gene linked to Attention-deficit/hyperactivity disorder (ADHD) risk in adults. The long non-coding RNA gene STXBP5-AS1 showed a significant association with ADHD symptoms in a large meta-analysis, suggesting a role in impulsivity.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Attention-deficit/hyperactivity disorder (ADHD) is a heritable neurodevelopmental disorder persisting into adulthood.
- ADHD is considered the clinical extreme of a continuous distribution of ADHD symptoms in the general population.
- Previous research has focused on childhood ADHD, with less known about genetic risk factors in adults.
Purpose of the Study:
- To identify Attention-deficit/hyperactivity disorder (ADHD) risk-conferring genes in adults.
- To estimate the single nucleotide polymorphism (SNP)-based heritability of quantitative ADHD symptoms in adults.
- To conduct a genome-wide association meta-analysis in adult cohorts.
Main Methods:
- Meta-analysis of genome-wide association studies (GWAS) in adult cohorts (SAGA consortium, n=14,689).
- Estimation of SNP-based heritability for self-reported ADHD symptoms.
- Replication and combined analysis with childhood ADHD cohorts (EAGLE consortium, n=14,776).
Main Results:
- Significant SNP-based heritability for ADHD symptoms was found in two adult cohorts (15% and 30%).
- The top associated SNP (rs12661753) in the STXBP5-AS1 gene was significant in adult meta-analysis and replicated in childhood ADHD cohorts.
- STXBP5-AS1 expression enhanced STXBP5 expression in vitro, and its mouse ortholog correlated with reduced impulsivity in vivo.
Conclusions:
- The STXBP5-AS1 gene is a potential ADHD risk gene, influencing ADHD symptom distribution.
- Findings suggest a biological mechanism involving STXBP5-AS1 and STXBP5 in ADHD-related impulsivity.
- This study highlights the importance of investigating ADHD genetics in adult populations.
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