Evidence map›Paper›PMID 22717047›Full record

ArticleThe international journal of neuropsychopharmacology2013

Genome-wide gene-set analysis for identification of pathways associated with alcohol dependence.

Joanna M Biernacka, Jennifer Geske, Gregory D Jenkins, Colin Colby, David N Rider, Victor M Karpyak, Doo-Sup Choi, Brooke L Fridley

Open access · bronzeAbstract read
In one paragraph

Article in The international journal of neuropsychopharmacology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 7% 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

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Tumorigenesis-related key genes in adolescents and young adults with HR(+)/HER2(-) breast cancer.International journal of clinical and experimental pathology · 2020
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Overview of the Genetics of Alcohol Use Disorder.Alcohol and alcoholism (Oxford, Oxfordshire) · 2016
    Review
  15. Article
  16. Article
  17. Article
  18. Review
  19. A brief history of research on the genetics of alcohol and other drug use disorders.Journal of studies on alcohol and drugs. Supplement · 2014
    Review
  20. Review
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

8 authors at 3 institutions in 1 country.

Joanna M BiernackaDivisions of Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA. biernacka.joanna@mayo.edu
Jennifer Geske
Gregory D Jenkins
Colin Colby
David N Rider
Victor M Karpyak
Doo-Sup Choi
Brooke L Fridley
Mayo Clinic in Florida · USMayo Clinic · USWinnMed · US

Funding

Integrative genomic models for analysis of pharmacogenomic studiesR21CA140879 · NCI · MAYO CLINIC ROCHESTER · PI FRIDLEY, BROOKE L · 2009 to 2010
$299k
Bayesian hierarchical nonlinear models for pharmacogenomic cytotoxicity studiesR21GM086689 · NIGMS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI FRIDLEY, BROOKE L · 2011 to 2012
$232k
Pathway-based analysis of addiction susceptibility genesR03AA019570 · NIAAA · MAYO CLINIC ROCHESTER · PI BIERNACKA, JOANNA M · 2009 to 2010
$75k
NCI NIH HHS R21 CA140879NCI NIH HHS R21CA140879NIAAA NIH HHS R03 AA019570NIGMS NIH HHS R21 GM086689NIGMS NIH HHS R21GM86689
6 · The paper itself

Abstract

It is believed that multiple genetic variants with small individual effects contribute to the risk of alcohol dependence. Such polygenic effects are difficult to detect in genome-wide association studies that test for association of the phenotype with each single nucleotide polymorphism (SNP) individually. To overcome this challenge, gene-set analysis (GSA) methods that jointly test for the effects of pre-defined groups of genes have been proposed. Rather than testing for association between the phenotype and individual SNPs, these analyses evaluate the global evidence of association with a set of related genes enabling the identification of cellular or molecular pathways or biological processes that play a role in development of the disease. It is hoped that by aggregating the evidence of association for all available SNPs in a group of related genes, these approaches will have enhanced power to detect genetic associations with complex traits. We performed GSA using data from a genome-wide study of 1165 alcohol-dependent cases and 1379 controls from the Study of Addiction: Genetics and Environment (SAGE), for all 200 pathways listed in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Results demonstrated a potential role of the 'synthesis and degradation of ketone bodies' pathway. Our results also support the potential involvement of the 'neuroactive ligand-receptor interaction' pathway, which has previously been implicated in addictive disorders. These findings demonstrate the utility of GSA in the study of complex disease, and suggest specific directions for further research into the genetic architecture of alcohol dependence.

Indexed as

Sensory Receptor CellsAlcoholismCell CycleDatabases, GeneticFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansKetone BodiesLigandsLinkage DisequilibriumMalePhenotypePolymorphism, Single NucleotidePrincipal Component AnalysisKetone BodiesLigands

Identifiers

PMID22717047
PMCPMC3854955
OpenAlexW2021142240

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.