ArticleMolecular psychiatry2021
Allele-specific expression and high-throughput reporter assay reveal functional genetic variants associated with alcohol use disorders.
Article in Molecular psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- A systematic review and meta-analysis on the transcriptomic signatures in alcohol use disorder.Molecular psychiatry · 2025Pooled it
- Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Regulatory mechanisms driven by functional 3'-UTR variants in alcohol use disorder and related traits.Genome biology · 2026Article
- Allele specific expression in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Translational evidence for increased central amygdala IL-6 activity in alcohol dependence.Journal of neuroinflammation · 2026Article
- Bulk and single-cell transcriptomic brain data identify overlapping processes and cell-types with human AUD and mammalian models of alcohol use.Translational psychiatry · 2026Article
- Self-organizing maps for allele specific expression data reconstruction and identification of anomalous genomic regions.Frontiers in bioinformatics · 2026Article
- Elevated intron retention implicates neuroinflammation in brains of individuals with alcohol use disorder.Brain communications · 2026Article
- Noradrenaline Modulates Central Amygdala GABA Transmission and Alcohol Drinking in Female Rats.Biological psychiatry · 2026Article
- Genomic and Behavioral Signatures of Selection for Ethanol Preference from the Heterogeneous Stock Collaborative Cross Mice - The Central Nucleus of the Amygdala.Addiction neuroscience · 2025Article
- Modeling Brain Gene Expression in Alcohol Use Disorder with Genetic Animal Models.Current topics in behavioral neurosciences · 2025Review
- Multi-omics cannot replace sample size in genome-wide association studies.Genes, brain, and behavior · 2023Article
- The Collaborative Study on the Genetics of Alcoholism: Overview.Genes, brain, and behavior · 2023Review
- 5. Collaborative Study on the Genetics of Alcoholism: Functional genomics.Genes, brain, and behavior · 2023Review
- Genome- and transcriptome-wide splicing associations with alcohol use disorder.Scientific reports · 2023Article
- Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort.Scientific reports · 2023Article
- Article
- Recombination affects allele-specific expression of deleterious variants in human populations.Science advances · 2022Article
- Mapping the miRNA-mRNA Interactome in Human Hepatocytes and Identification of Functional mirSNPs in Pharmacogenes.Clinical pharmacology and therapeutics · 2021Article
- Mistranslation Drives Alterations in Protein Levels and the Effects of a Synonymous Variant at the Fibroblast Growth Factor 21 Locus.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2021Article
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Authors and funding
21 authors at 4 institutions in 1 country.
Funding
Abstract
Genome-wide association studies (GWAS) of complex traits, such as alcohol use disorders (AUD), usually identify variants in non-coding regions and cannot by themselves distinguish whether the associated variants are functional or in linkage disequilibrium with the functional variants. Transcriptome studies can identify genes whose expression differs between alcoholics and controls. To test which variants associated with AUD may cause expression differences, we integrated data from deep RNA-seq and GWAS of four postmortem brain regions from 30 subjects with AUD and 30 controls to analyze allele-specific expression (ASE). We identified 88 genes with differential ASE in subjects with AUD compared to controls. Next, to test one potential mechanism contributing to the differential ASE, we analyzed single nucleotide polymorphisms (SNPs) in the 3' untranslated regions (3'UTR) of these genes. Of the 88 genes with differential ASE, 61 genes contained 437 SNPs in the 3'UTR with at least one heterozygote among the subjects studied. Using a modified PASSPORT-seq (parallel assessment of polymorphisms in miRNA target-sites by sequencing) assay, we identified 25 SNPs that affected RNA levels in a consistent manner in two neuroblastoma cell lines, SH-SY5Y and SK-N-BE(2). Many of these SNPs are in binding sites of miRNAs and RNA-binding proteins, indicating that these SNPs are likely causal variants of AUD-associated differential ASE. In sum, we demonstrate that a combination of computational and experimental approaches provides a powerful strategy to uncover functionally relevant variants associated with the risk for AUD.
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