Evidence map›Paper›PMID 25387709›Full record

ArticlePsychophysiology2014

Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes.

Scott I Vrieze, Stephen M Malone, Nathan Pankratz, Uma Vaidyanathan, Michael B Miller, Hyun Min Kang, Matt McGue, Gonçalo Abecasis, William G Iacono

Open access · bronzeAbstract readTwin Study
In one paragraph

Article in Psychophysiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 6% 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

17 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Whole genome sequence association and ancestry-informed polygenic profile of EEG alpha in a Native American population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Article
  5. What can time-frequency and phase coherence measures tell us about the genetic basis of P3 amplitude?International journal of psychophysiology : official journal of the International Organization of Psychophysiology · 2017
    Article
  6. Article
  7. Lipoquality control by phospholipase AProceedings of the Japan Academy. Series B, Physical and biological sciences · 2017
    Review
  8. Endophenotype best practices.International journal of psychophysiology : official journal of the International Organization of Psychophysiology · 2017
    Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. 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.

Scott I VriezeDepartment of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
Stephen M Malone
Nathan Pankratz
Uma Vaidyanathan
Michael B Miller
Hyun Min Kang
Matt McGue
Gonçalo Abecasis
William G Iacono
University of Minnesota · USUniversity of Michigan–Ann Arbor · US

Funding

Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentU01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2007 to 2010
$10.8M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
TWIN STUDY OF FEMALE ALCOHOLISMS AND OTHER DISORDERSR01AA009367 · NIAAA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI MCGUE, MATTHEW K. · 1992 to 2013
$9.0M
Twin Family Study of Vulnerability to Substance AbuseR37DA005147 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2009 to 2018
$6.4M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaU01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2017 to 2018
$6.3M
TWIN/FAMILY STUDY OF VULNERABILITY TO SUBSTANCE ABUSER01DA005147 · NIDA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI IACONO, WILLIAM G · 1987 to 2007
$5.5M
Adolescent drinking and midlife outcomes: A prospective cotwin control studyR37AA009367 · NIAAA · UNIVERSITY OF MINNESOTA · PI MCGUE, MATTHEW K. · 2016 to 2024
$5.4M
TWIN STUDY OF ADHD, CD, AND SUBSTANCE ABUSER01DA013240 · NIDA · UNIVERSITY OF MINNESOTA TWIN CITIES · PI IACONO, WILLIAM G. · 2000 to 2010
$5.0M
Adult consequences of youth substance use: Twin study enriched for SUD riskR01DA036216 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2013 to 2017
$3.2M
Computational and statistical models for human geneticsR01HG007022 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2012 to 2016
$3.0M
Substance Abuse & Behavioral Disinhibition: Integrating Genes & EnvironmentR01DA024417 · NIDA · UNIVERSITY OF MINNESOTA · PI IACONO, WILLIAM G. · 2011 to 2011
$1.6M
Delineating Gene, Environment, & Development Interplay in Substance Use DisordersR01DA034606 · NIDA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HICKS, BRIAN M · 2013 to 2015
$706k
NHGRI NIH HHS HG007022NHGRI NIH HHS R01 HG007022NHLBI NIH HHS HL117626NHLBI NIH HHS R01 HL117626NHLBI NIH HHS U01 HL117626NIAAA NIH HHS AA09367NIAAA NIH HHS R01 AA009367NIAAA NIH HHS R37 AA009367NIDA NIH HHS DA024417NIDA NIH HHS DA034606NIDA NIH HHS DA036216NIDA NIH HHS DA05147NIDA NIH HHS DA13240NIDA NIH HHS R01 DA005147NIDA NIH HHS R01 DA013240NIDA NIH HHS R01 DA024417NIDA NIH HHS R01 DA034606NIDA NIH HHS R01 DA036216NIDA NIH HHS R37 DA005147NIDA NIH HHS U01 DA024417
6 · The paper itself

Abstract

We mapped ∼85,000 rare nonsynonymous exonic single nucleotide polymorphisms (SNPs) to 17 psychophysiological endophenotypes in 4,905 individuals, including antisaccade eye movements, resting EEG, P300 amplitude, electrodermal activity, affect-modulated startle eye blink. Nonsynonymous SNPs are predicted to directly change or disrupt proteins encoded by genes and are expected to have significant biological consequences. Most such variants are rare, and new technologies can efficiently assay them on a large scale. We assayed 247,870 mostly rare SNPs on an Illumina exome array. Approximately 85,000 of the SNPs were polymorphic, rare (MAF < .05), and nonsynonymous. Single variant association tests identified a SNP in the PARD3 gene associated with theta resting EEG power. The sequence kernel association test, a gene-based test, identified a gene PNPLA7 associated with pleasant difference startle, the difference in startle magnitude between pleasant and neutral images. No other single nonsynonymous variant, or gene-based group of variants, was strongly associated with any endophenotype.

Indexed as

EndophenotypesExonsPolymorphism, Single NucleotideBrainElectroencephalographyEvent-Related Potentials, P300Galvanic Skin ResponseGenetic Association StudiesHumansReflex, StartleSaccadesSensory GatingTwinsAntisaccadeEEGElectrodermalEndophenotypeExomeGWASNonsynonymousP300PsychophysiologyRare variantStartle

Identifiers

PMID25387709
PMCPMC4231532
OpenAlexW1905087892

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.