Evidence map›Paper›PMID 29581423›Full record

ArticleTranslational psychiatry2018

Effects on gene expression and behavior of untagged short tandem repeats: the case of arginine vasopressin receptor 1a (AVPR1a) and externalizing behaviors.

Clare C Landefeld, Colin A Hodgkinson, Primavera A Spagnolo, Cheryl A Marietta, Pei-Hong Shen, Hui Sun, Zhifeng Zhou, Barbara K Lipska, David Goldman

Open access · goldAbstract read
In one paragraph

Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

9 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Frontiers in psychology · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Neurodegenerative Disease Caregivers' 5-HTTLPR Genotype Moderates the Effect of Patients' Empathic Accuracy Deficits on Caregivers' Well-Being.The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry · 2019
    Article
  8. Article
  9. 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

9 authors at 2 institutions in 1 country.

Clare C LandefeldCleveland Clinic Lerner College of Medicine at Case Western Reserve University, Cleveland, OH, 44195, USA.ORCID http://orcid.org/0000-0001-5418-7788
Colin A HodgkinsonLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA.
Primavera A SpagnoloOffice of the Clinical Director, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD, 20852, USA.
Cheryl A MariettaLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA.
Pei-Hong ShenLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA.
Hui SunLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA.
Zhifeng ZhouLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA.
Barbara K LipskaHuman Brain Collection Core, National Institutes of Mental Health, National Institutes of Health, Bethesda, MD, 20814, USA.
David GoldmanLaboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, 20852, USA. davidgoldman@mail.nih.gov.
National Institutes of Health · USNational Institute on Alcohol Abuse and Alcoholism · US

Funding

Integrative genetics of behavior with high throughput technologiesZIAAA000301 · NIAAA · NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM · PI GOLDMAN, DAVID · 2009 to 2025
$68.6M
Procurement and Characterization of Postmortem Brain TissueZICMH002903 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MARENCO, STEFANO · 2009 to 2025
$56.0M
Genetic influences on alcohol use disorder in Native AmericansZIAAA000281 · NIAAA · NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM · PI GOLDMAN, DAVID · 2009 to 2025
$6.7M
MOLECULAR GENETIC STUDIES ON ALCOHOLISM IN AMERICAN INDIANS--SOUTHWESTERN TRIBEZ01AA000281 · NIAAA · NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM · PI GOLDMAN, DAVID · 1990 to 2008
$1.1M
Intramural NIH HHS Z01 AA000281NIAAA NIH HHS Z01 AA000281
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) of complex, heritable, behavioral phenotypes have yielded an incomplete accounting of the genetic influences. The identified loci explain only a portion of the observed heritability, and few of the loci have been shown to be functional. It is clear that current GWAS techniques overlook key components of phenotypically relevant genetic variation, either because of sample size, as is frequently asserted, or because of methodology. Here we use arginine vasopressin receptor 1a (AVPR1a) as an in-depth model of a methodologic limitation of GWAS: the functional genetic variation (in the form of short tandem repeats) of this key gene involved in affiliative behavior cannot be captured by current GWAS methodologies. Importantly, we find evidence of differential allele expression, twofold or more, in at least a third of human brain samples heterozygous for a reporter SNP in the AVPR1a transcript. We also show that this functional effect and a downstream phenotype, externalizing behavior, are predicted by AVPR1a STRs but not SNPs.

Indexed as

Gene ExpressionMicrosatellite RepeatsAttention Deficit and Disruptive Behavior DisordersBrainCohort StudiesFemaleFinlandGene FrequencyGenome-Wide Association StudyGenotypeHaplotypesHumansMalePolymorphism, Single NucleotideReceptors, VasopressinWhite PeopleAVPR1A protein, humanReceptors, Vasopressin

Identifiers

PMID29581423
PMCPMC5913313
OpenAlexW2795106002

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.