ArticleFrontiers in psychiatry2023
A whole exome sequencing study to identify rare variants in multiplex families with alcohol use disorder.
Article in Frontiers in psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- Novel transcription factor zinc finger 514 suppresses lung adenocarcinoma progression and enhances cisplatin sensitivity via transcriptional repression of COL1A1.British journal of cancer · 2026Article
- The LEADING guideline: Reporting standards for expert panel, best-estimate diagnosis, and longitudinal expert all data (LEAD) methods.Comprehensive psychiatry · 2025Article
- Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing.Addiction biology · 2025Article
- Investigating the Contribution of Coding Variants in Alcohol Use Disorder Using Whole-Exome Sequencing Across Ancestries.Biological psychiatry · 2025Article
- Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report.Genes, brain, and behavior · 2025Article
- Across preclinical and clinical platforms, approved and investigational psychiatric drugs share pathways and associate with similar molecular functions.Frontiers in drug discovery · 2025Article
- Article
- The LEADING Guideline: Reporting Standards for Expert Panel, Best-Estimate Diagnosis, and Longitudinal Expert All Data (LEAD) Studies.medRxiv : the preprint server for health sciences · 2024Article
- Human genetics and epigenetics of alcohol use disorder.The Journal of clinical investigation · 2024Review
- Inter- and transgenerational heritability of preconception chronic stress or alcohol exposure: Translational outcomes in brain and behavior.Neurobiology of stress · 2024Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Background: Alcohol use disorder (AUD) runs in families and is accompanied by genetic variation. Some families exhibit an extreme susceptibility in which multiple cases are found and often with an early onset of the disorder. Large scale genome-wide association studies have identified several genes with impressive statistical probabilities. Most of these genes are common variants. Our goal was to perform exome sequencing in families characterized by multiple cases (multiplex families) to determine if rare variants might be segregating with disease status. Methods: A case-control approach was used to leverage the power of a large control sample of unrelated individuals ( Results: We searched 18,666 protein coding genes to identify an excess of rare deleterious genetic variation using whole exome sequence data in the 53 AUD individuals from a total of 282 family members. To complete a case/control analysis of unrelated individuals, probands were compared to unrelated controls. Case enrichment for 16 genes with significance at 10 Conclusion: This study implicates ultra-rare loss-of-function genes in AUD cases. Among the genes identified include those previously reported for nicotine and alcohol dependence (
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Registered trials
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