Evidence map›Paper›PMID 36894673›Full record

ArticleScientific reports2023

Genome- and transcriptome-wide splicing associations with alcohol use disorder.

Spencer B Huggett, Ami S Ikeda, Qingyue Yuan, Chelsie E Benca-Bachman, Rohan H C Palmer

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
2.2field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Alternative splicing in addiction.Current opinion in genetics & development · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Integrating human brain proteomic data with genome-wide association study findings identifies novel brain proteins in substance use traits.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2022
    Article
  13. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Spencer B HuggettBehavioral Genetics of Addiction Laboratory, Department of Psychology, Emory University, 36 Eagle Row, Atlanta, GA, 30322, USA.
Ami S IkedaBehavioral Genetics of Addiction Laboratory, Department of Psychology, Emory University, 36 Eagle Row, Atlanta, GA, 30322, USA.
Qingyue YuanBehavioral Genetics of Addiction Laboratory, Department of Psychology, Emory University, 36 Eagle Row, Atlanta, GA, 30322, USA.
Chelsie E Benca-BachmanBehavioral Genetics of Addiction Laboratory, Department of Psychology, Emory University, 36 Eagle Row, Atlanta, GA, 30322, USA.
Rohan H C PalmerBehavioral Genetics of Addiction Laboratory, Department of Psychology, Emory University, 36 Eagle Row, Atlanta, GA, 30322, USA. rohan.palmer@emory.edu.
Emory University · US

Funding

Longitudinal examination of DNA methylation in maltreated childrenR01HD095837 · NICHD · EMMA PENDLETON BRADLEY HOSPITAL · PI PARADE, STEPHANIE HART · 2018 to 2022
$2.8M
The Kinship Risk Score: An Integrative Tool to Prioritize Alcohol and Drug-Addiction Related Genes for Enhanced Risk PredictionDP1DA042103 · NIDA · EMORY UNIVERSITY · PI PALMER, ROHAN HUGH CRAIG · 2017 to 2021
$2.3M
Advancing the Research Careers of Women and PEERs in Brain ScienceR25NS124530 · NINDS · BROWN UNIVERSITY · PI CARLOS D AIZENMAN, Diane Lipscombe · 2022 to 2026
$1.3M
NICHD NIH HHS R01 HD095837NIDA NIH HHS DP1 DA042103NINDS NIH HHS R25 NS124530
6 · The paper itself

Abstract

Genetic mechanisms of alternative mRNA splicing have been shown in the brain for a variety of neuropsychiatric traits, but not substance use disorders. Our study utilized RNA-sequencing data on alcohol use disorder (AUD) in four brain regions (n = 56; ages 40-73; 100% 'Caucasian'; PFC, NAc, BLA and CEA) and genome-wide association data on AUD (n = 435,563, ages 22-90; 100% European-American). Polygenic scores of AUD were associated with AUD-related alternative mRNA splicing in the brain. We identified 714 differentially spliced genes between AUD vs controls, which included both putative addiction genes and novel gene targets. We found 6463 splicing quantitative trait loci (sQTLs) that linked to the AUD differentially spliced genes. sQTLs were enriched in loose chromatin genomic regions and downstream gene targets. Additionally, the heritability of AUD was enriched for DNA variants in and around differentially spliced genes associated with AUD. Our study also performed splicing transcriptome-wide association studies (TWASs) of AUD and other drug use traits that unveiled specific genes for follow-up and splicing correlations across SUDs. Finally, we showed that differentially spliced genes between AUD vs control were also associated with primate models of chronic alcohol consumption in similar brain regions. Our study found substantial genetic contributions of alternative mRNA splicing in AUD.

Indexed as

AlcoholismTranscriptomeAlcohol DrinkingAlternative SplicingAnimalsDNA, RecombinantGenome-Wide Association StudyQuantitative Trait LociRNA, MessengerDNA, RecombinantRNA, Messenger

Identifiers

PMID36894673
PMCPMC9998611
OpenAlexW4323662945

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.