Evidence map›Paper›PMID 38387257›Full record

SynthesisDrug and alcohol dependence2024

Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals.

Pamela N Romero Villela, Luke M Evans, Teemu Palviainen, Richard Border, Jaakko Kaprio, Rohan H C Palmer, Matthew C Keller, Marissa A Ehringer

Open access · greenAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Drug and alcohol dependence, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 97% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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 5 institutions in 2 countries.

Pamela N Romero VillelaInstitute for Behavioral Genetics, University of Colorado, Boulder, USA; Department of Psychology and Neuroscience, University of Colorado, Boulder, USA.
Luke M EvansInstitute for Behavioral Genetics, University of Colorado, Boulder, USA; Department of Ecology and Evolutionary Biology, University of Colorado, Boulder, USA.
Teemu PalviainenInstitute for Molecular Medicine Finland FIMM, University of Helsinki, USA.
Richard BorderDepartments of Neurology and Computer Science, University of California, Los Angeles, USA.
Jaakko KaprioInstitute for Molecular Medicine Finland FIMM, University of Helsinki, USA.
Rohan H C PalmerBehavioral Genetics of Addiction Laboratory, Department of Psychology, Emory University, Atlanta, GA, USA.
Matthew C KellerInstitute for Behavioral Genetics, University of Colorado, Boulder, USA; Department of Psychology and Neuroscience, University of Colorado, Boulder, USA.
Marissa A EhringerInstitute for Behavioral Genetics, University of Colorado, Boulder, USA; Departments of Neurology and Computer Science, University of California, Los Angeles, USA; Department of Integrative Physiology, University of Colorado, Boulder, USA. Electronic address: marissa.ehringer@colorado.edu.
Institute for Behavioral Medicine · USInstitute for Molecular Medicine Finland · FIUniversity of California, Los Angeles · USEmory University · USUniversity of Colorado Boulder · US

Funding

Colorado Adoption/Twin Study of Lifespan behavioral development & cognitive aging (CATSLife2)R01AG046938 · NIA · UNIVERSITY OF COLORADO · PI REYNOLDS, CHANDRA A, WADSWORTH, SALLY J · 2015 to 2024
$18.5M
Estimating the genetic and environmental architecture of psychiatric disordersR01MH100141 · NIMH · UNIVERSITY OF COLORADO · PI KELLER, MATTHEW CHARLES · 2013 to 2022
$5.3M
Deep Sequencing, Phenotyping, and Imputation in Large-Scale Biobanks: A Novel and Cost-Effective Framework to Identify Rare Mutations Associated with AddictionR01DA044283 · NIDA · UNIVERSITY OF MINNESOTA · PI ALBERT, FRANK WOLFGANG, VRIEZE, SCOTT IAN · 2019 to 2024
$3.2M
Integrative Prioritization of Alcohol and Drug-Addiction Related Genetic LociR01DA042742 · NIDA · EMORY UNIVERSITY · PI PALMER, ROHAN HUGH CRAIG · 2018 to 2022
$1.7M
Role of glial expression in nicotine behaviors for genes identified through human GWASR21DA055781 · NIDA · UNIVERSITY OF COLORADO · PI EHRINGER, MARISSA A, HOEFFER, CHARLES A · 2022 to 2023
$343k
NIA NIH HHS R01 AG046938NIDA NIH HHS R01 DA042742NIDA NIH HHS R01 DA044283NIDA NIH HHS R21 DA055781NIMH NIH HHS R01 MH100141
6 · The paper itself

Abstract

backgroundThe understanding of the molecular genetic contributions to smoking is largely limited to the additive effects of individual single nucleotide polymorphisms (SNPs), but the underlying genetic risk is likely to also include dominance, epistatic, and gene-environment interactions.

methodsTo begin to address this complexity, we attempted to identify genetic interactions between rs16969968, the most replicated SNP associated with smoking quantity, and all SNPs and genes across the genome.

resultsUsing the UK Biobank European subsample, we found one SNP, rs1892967, and two genes, PCNA and TMEM230, that showed a significant genome-wide interaction with rs16969968 for log10 CPD and raw CPD, respectively, in a sample of 116 442 individuals who self-reported currently or previously smoking. We extended these analyses to individuals of South Asian descent and meta-analyzed the combined sample of 117 212 individuals of European and South Asian ancestry. We replicated the gene findings in a meta-analysis of five Finnish samples (N=40 140): FinHealth, FINRISK, Finnish Twin Cohort, GeneRISK, and Health-2000-2011.

conclusionsTo our knowledge, this represents the first reliable epistatic association between single nucleotide polymorphisms for smoking behaviors and provides a novel direction for possible future functional studies related to this interaction. Furthermore, this work demonstrates the feasibility of these analyses by pooling multiple datasets across various ancestries, which may be applied to other top SNPs for smoking and/or other phenotypes.

Indexed as

Parkinson DiseaseTobacco ProductsChromosomes, Human, Pair 20Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansMembrane ProteinsPolymorphism, Single NucleotideProliferating Cell Nuclear AntigenScandinavians and Nordic PeopleSmokingSouth Asian PeopleUnited KingdomWhite PeopleMembrane ProteinsPCNA protein, humanProliferating Cell Nuclear AntigenTMEM230 protein, humanCigarettes per dayInteractionMagmars16969968Smoking

Identifiers

PMID38387257
PMCPMC11062023
OpenAlexW4391850464

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.