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Parallel Single-Tissue Summary-Data Mendelian Randomization and Functional Validation Identify the ARRDC1 Promoter
Lesheng Wang1,2, Zhipeng Xu3, Gaomeng Luo1,2
1Department of Neurosurgery, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, 430071, People's Republic of China.
Neuropsychiatric Disease and Treatment
|April 27, 2026
Summary
This study identifies ARRDC1 as a risk gene for anxiety disorders. Elevated ARRDC1 expression in the cerebellum causes anxiety-like behaviors in mice, highlighting a new neurocircuitry component.
Area of Science:
- Neurogenetics
- Behavioral Neuroscience
- Genetic Epidemiology
Background:
- Anxiety disorders have high heritability, but genetic underpinnings are not fully understood.
- Identifying genes causally linked to anxiety risk is crucial for understanding pathogenesis.
Purpose of the Study:
- To identify and functionally characterize genes associated with anxiety disorder risk.
- To integrate genetic data with molecular and behavioral validation.
Main Methods:
- Applied parallel single-tissue summary-data-based Mendelian randomization (SMR).
- Integrated anxiety disorder GWAS with expression quantitative trait loci (eQTL) data from blood and brain.
- Validated functional impact of SNP rs4494021 and ARRDC1 overexpression in mice.
Main Results:
- Identified 13 potential causal genes, with ARRDC1 being significant across tissues.
- Risk SNP rs4494021 enhanced ARRDC1 transcription.
- Cerebellar ARRDC1 overexpression in mice induced anxiety-like behaviors.
Conclusions:
- Identified ARRDC1 promoter SNP rs4494021 as a marker for anxiety disorders.
- Demonstrated that elevated cerebellar ARRDC1 expression contributes to anxiety.
- Established ARRDC1 as a functionally supported risk gene for anxiety.
Keywords:
ARRDC1anxiety disorderexpression quantitative trait locigenome-wide association studysingle nucleotide polymorphismsummary data-based mendelian randomizationMore Related Videos
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