Evidence map›Paper›PMID 21502949›Full record

ArticleMolecular psychiatry2011

Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search.

J L Stein, D P Hibar, S K Madsen, M Khamis, K L McMahon, G I de Zubicaray, N K Hansell, G W Montgomery, N G Martin, M J Wright and 6 more

Open access · greenAbstract readComparative Study
In one paragraph

Article in Molecular psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 2 pooled it
3.2field-weighted citation impact, top 8% 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

39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.

  1. Pooled it
  2. Genetic and environmental influences on neuroimaging phenotypes: a meta-analytical perspective on twin imaging studies.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2012
    Pooled it
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  14. Genome-wide association study of paliperidone efficacy.Pharmacogenetics and genomics · 2017
    Article
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  16. Article
  17. Review
  18. Article
  19. Genomic structural variants are linked with intellectual disability.Journal of neural transmission (Vienna, Austria : 1996) · 2015
    Article
  20. Magnetic resonance imaging in Alzheimer's Disease Neuroimaging Initiative 2.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2015
    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

16 authors at 7 institutions in 2 countries.

J L SteinDepartment of Neurology, Laboratory of Neuro Imaging, UCLA School of Medicine, Los Angeles, CA, USA.
D P Hibar
S K Madsen
M Khamis
K L McMahon
G I de Zubicaray
N K Hansell
G W Montgomery
N G Martin
M J Wright
A J Saykin
C R Jack
M W Weiner
A W Toga
P M Thompson
Alzheimer’s Disease Neuroimaging Initiative Investigators
University of California, Los Angeles · USQIMR Berghofer Medical Research Institute · AUIndiana University – Purdue University Indianapolis · USMayo Clinic in Florida · USNational Imaging Facility · AUSan Francisco VA Medical Center · USUniversity of Queensland · AU

Funding

Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
RECRUITMENT COREU19AG010483 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI FELDMAN, HOWARD · 2013 to 2020
$80.6M
UC Davis Alzheimer's Disease Core CenterP30AG010129 · NIA · UNIVERSITY OF CALIFORNIA DAVIS · PI DECARLI, CHARLES · 1991 to 2020
$28.3M
UCLA ALZHEIMERS DISEASE RESEARCH CENTERP50AG016570 · NIA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BREDESEN, DALE E. · 1999 to 2014
$25.9M
HARDI Mapping of Disease Effects on the BrainR01EB008432 · NIBIB · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI THOMPSON, PAUL M · 2009 to 2012
$2.6M
Genetic influences on the brain: A twin imaging studyR01HD050735 · NICHD · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI WRIGHT, MARGARET JANE · 2007 to 2011
$2.6M
Alzheimer's disease risk analyzed using population imaging genomicsR01AG040060 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2011 to 2016
$2.5M
DIGITAL REPRESENTATION AND VISUALIZATION OF HUMAN BRAINR01LM005639 · NLM · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI TOGA, ARTHUR W · 1995 to 2005
$1.8M
A Multidimensional Alzheimer's Disease Brain AtlasR01EB008281 · NIBIB · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI THOMPSON, PAUL M · 2007 to 2010
$1.4M
Computational Modeling of High-Field MR ImagesR01EB007813 · NIBIB · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI THOMPSON, PAUL M · 2007 to 2010
$1.3M
"MR Morphometrics and Cognitive Decline Rate in Large-Scale Aging Studies"K01AG030514 · NIA · UNIVERSITY OF CALIFORNIA AT DAVIS · PI CARMICHAEL, OWEN T. · 2008 to 2012
$495k
Novel PDEs for Cortical Mapping and Analysis in DiseaseR21RR019771 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI THOMPSON, PAUL M · 2003 to 2004
$351k
NCRR NIH HHS R21 RR019771NCRR NIH HHS RR019771NIA NIH HHS AG016570NIA NIH HHS K01 AG030514NIA NIH HHS P30 AG010129NIA NIH HHS P50 AG016570NIA NIH HHS R01 AG040060NIA NIH HHS U01 AG024904NIA NIH HHS U19 AG010483NIBIB NIH HHS EB007813NIBIB NIH HHS EB008281NIBIB NIH HHS EB008432NIBIB NIH HHS EB01651NIBIB NIH HHS R01 EB007813NIBIB NIH HHS R01 EB008281NIBIB NIH HHS R01 EB008432NICHD NIH HHS R01 HD050735NIMH NIH HHS 1F31MH087061NIMH NIH HHS F31 MH087061NLM NIH HHS LM05639NLM NIH HHS R01 LM005639
6 · The paper itself

Abstract

The caudate is a subcortical brain structure implicated in many common neurological and psychiatric disorders. To identify specific genes associated with variations in caudate volume, structural magnetic resonance imaging and genome-wide genotypes were acquired from two large cohorts, the Alzheimer's Disease NeuroImaging Initiative (ADNI; N=734) and the Brisbane Adolescent/Young Adult Longitudinal Twin Study (BLTS; N=464). In a preliminary analysis of heritability, around 90% of the variation in caudate volume was due to genetic factors. We then conducted genome-wide association to find common variants that contribute to this relatively high heritability. Replicated genetic association was found for the right caudate volume at single-nucleotide polymorphism rs163030 in the ADNI discovery sample (P=2.36 × 10⁻⁶) and in the BLTS replication sample (P=0.012). This genetic variation accounted for 2.79 and 1.61% of the trait variance, respectively. The peak of association was found in and around two genes, WDR41 and PDE8B, involved in dopamine signaling and development. In addition, a previously identified mutation in PDE8B causes a rare autosomal-dominant type of striatal degeneration. Searching across both samples offers a rigorous way to screen for genes consistently influencing brain structure at different stages of life. Variants identified here may be relevant to common disorders affecting the caudate.

Indexed as

3',5'-Cyclic-AMP PhosphodiesterasesAdultAgedAge FactorsCaudate NucleusDopamineFemaleGenetic VariationGenome-Wide Association StudyGenotypeHeredityHumansMagnetic Resonance ImagingMaleNeuroimagingPolymorphism, Single Nucleotide3',5'-Cyclic-AMP PhosphodiesterasesDopaminePDE8B protein, human

Identifiers

PMID21502949
PMCPMC3140560
OpenAlexW2092537030

What OpenQuestion holds

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Read underepoch 390

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.