ArticleBiological psychiatry2023
Phenome-wide Association Analysis of Substance Use Disorders in a Deeply Phenotyped Sample.
Article in Biological psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.Nature human behaviour · 2024Pooled it
- A multi-ancestry genetic study of pain intensity in 598,339 veterans.Nature medicine · 2024Pooled it
- Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals.Nature medicine · 2023Pooled it
- Exploring the Pleiotropic Genetic Architecture of Substance Use Disorders: Findings From Phenome-Wide Association Studies.Biological psychiatry global open science · 2026Review
- Pathways from Polygenic Risk to Suicidality: Effects of Alcohol Use Disorder and Childhood Adversity.medRxiv : the preprint server for health sciences · 2026Article
- Genome-wide association studies of lifetime and frequency of cannabis use in 131,895 individuals.Molecular psychiatry · 2026Article
- Phenome-wide analysis of genetically imputed neuroimaging phenotypes reveals associations with psychiatric traits in a multi-ancestry cohort.medRxiv : the preprint server for health sciences · 2025Article
- Review
- Youth Correlates of Genetic Liability to Substance Use Disorders.medRxiv : the preprint server for health sciences · 2025Article
- Predicting treatment-seeking status for alcohol use disorder using polygenic scores and machine learning in a deeply-phenotyped sample.Drug and alcohol dependence · 2025Article
- Epigenetic and genetic profiling of comorbidity patterns among substance dependence diagnoses.Molecular psychiatry · 2025Article
- Multi-ancestry Genome-wide Association Study of Inpatient Opioid Dosing Following Knee or Hip Arthroplasty.Research square · 2025Article
- Polygenic risk and childhood adversity as moderators of drug and alcohol withdrawal symptoms.Drug and alcohol dependence · 2025Article
- Multi-ancestry Genome-wide Association Study of Inpatient Opioid Dosing Following Knee or Hip Arthroplasty.medRxiv : the preprint server for health sciences · 2025Article
- Multi-ancestry genome-wide association study of topiramate's effects on heavy alcohol use.Alcohol, clinical & experimental research · 2025Article
- Associations of childhood adversity and substance use disorder polygenic scores with disorder severity and diagnostic criteria.Psychological medicine · 2025Article
- Exploring beyond diagnoses in electronic health records to improve discovery: a review of the phenome-wide association study.JAMIA open · 2025Review
- Association Between GABRG2 and Self-Rating of the Effects of Alcohol in a French Young Adult Sample.Risk management and healthcare policy · 2025Article
- Next-generation biomarkers for alcohol consumption and alcohol use disorder diagnosis, prognosis, and treatment: A critical review.Alcohol, clinical & experimental research · 2025Review
- Application of polygenic scores to a deeply phenotyped sample enriched for substance use disorders reveals extensive pleiotropy with psychiatric and somatic traits.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundSubstance use disorders (SUDs) are associated with a variety of co-occurring psychiatric disorders and other SUDs, which partly reflects genetic pleiotropy. Polygenic risk scores (PRSs) and phenome-wide association studies are useful in evaluating pleiotropic effects. However, the comparatively low prevalence of SUDs in population samples and the lack of detailed information available in electronic health records limit these data sets' informativeness for such analyses.
methodsWe used the deeply phenotyped Yale-Penn sample (n = 10,610 with genetic data; 46.3% African ancestry, 53.7% European ancestry) to examine pleiotropy for 4 major substance-related traits: alcohol use disorder, opioid use disorder, smoking initiation, and lifetime cannabis use. The sample includes both affected and control subjects interviewed using the Semi-Structured Assessment for Drug Dependence and Alcoholism, a comprehensive psychiatric interview.
resultsIn African ancestry individuals, PRS for alcohol use disorder, and in European individuals, PRS for alcohol use disorder, opioid use disorder, and smoking initiation were associated with their respective primary DSM diagnoses. These PRSs were also associated with additional phenotypes involving the same substance. Phenome-wide association study analyses of PRS in European individuals identified associations across multiple phenotypic domains, including phenotypes not commonly assessed in phenome-wide association study analyses, such as family environment and early childhood experiences.
conclusionsSmaller, deeply phenotyped samples can complement large biobank genetic studies with limited phenotyping by providing greater phenotypic granularity. These efforts allow associations to be identified between specific features of disorders and genetic liability for SUDs, which help to inform our understanding of the pleiotropic pathways underlying them.
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