Evidence map›Paper›PMID 23630162›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2013

Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder.

Pablo R Moya, Jens R Wendland, Liza M Rubenstein, Kiara R Timpano, Gary A Heiman, Jay A Tischfield, Robert A King, Anne M Andrews, Samanda Ramamoorthy, Francis J McMahon and 1 more

Open access · greenAbstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
6.4field-weighted citation impact, top 4% 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

30 citing papers in PubMed, 57 citations in OpenAlex.

  1. Trial
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  8. Mechanisms of Action ofDegenerative neurological and neuromuscular disease · 2022
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  19. [Changes in T helper lymphocytes and their subsets in children with tic disorders].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018
    Article
  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

11 authors at 7 institutions in 3 countries.

Pablo R MoyaNational Institute of Mental Health-Intramural Research Program, Bethesda, MD, USA. moyap@mail.nih.gov
Jens R Wendland
Liza M Rubenstein
Kiara R Timpano
Gary A Heiman
Jay A Tischfield
Robert A King
Anne M Andrews
Samanda Ramamoorthy
Francis J McMahon
Dennis L Murphy
National Institute of Mental Health · USRutgers, The State University of New Jersey · USNational Institute of Mental Health · CZUniversity of California, Los Angeles · USUniversity of Miami · USVirginia Commonwealth University · USYale University · US

Funding

NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8M
Mapping genes that contribute to bipolar disorderZIAMH002810 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MCMAHON, FRANCIS J · 2009 to 2025
$31.2M
Identification of Genes Involved in Major Mood DisordersZIAMH002843 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MCMAHON, FRANCIS J · 2009 to 2025
$24.5M
Genetic Mouse Models for the Study of Serotonin Function and BehaviorZIAMH000332 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MURPHY, DENNIS L · 2009 to 2014
$4.9M
The Genetics of Obsessive Compulsive Disorder and Related OCD Spectrum DisordersZIAMH000336 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MURPHY, DENNIS L · 2009 to 2014
$4.8M
Voltammetry of 5-HT Transmission in Psychiatric & Degenerative Disease ModelsR01MH064756 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ANDREWS, ANNE MILASINCIC · 2002 to 2011
$1.9M
THE PSYCHOLBIOLOGY AND TREATMENT OF OBESSIVE-COMPULSIVE DISORDER IN ADULTSZ01MH000336 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MURPHY, DENNIS L · 1985 to 2008
$937k
1/8-Collaborative genomic studies of Tourette DisorderR01MH092293 · NIMH · RUTGERS, THE STATE UNIV OF N.J. · PI HEIMAN, GARY A., TISCHFIELD, JAY ARNOLD · 2011 to 2013
$510k
Intramural NIH HHS Z01 MH000336Intramural NIH HHS Z99 MH999999Intramural NIH HHS ZIA MH000336NIMH NIH HHS R01 MH064756NIMH NIH HHS R01-MH064756NIMH NIH HHS R01 MH092293NIMH NIH HHS R01-MH092293NIMH NIH HHS U24 MH068457
6 · The paper itself

Abstract

To evaluate the hypothesis that functionally over-expressing alleles of the serotonin transporter (SERT) gene (solute carrier family 6, member 4, SLC6A4) are present in Tourette's disorder (TD), just as we previously observed in obsessive compulsive disorder (OCD), we evaluated TD probands (N = 151) and controls (N = 858). We genotyped the refined SERT-linked polymorphic region 5-HTTLPR/rs25531 and the associated rs25532 variant in the SLC6A4 promoter plus the rare coding variant SERT isoleucine-to-valine at position 425 (I425V). The higher expressing 5-HTTLPR/rs25531 LA allele was more prevalent in TD probands than in controls (χ(2)  = 5.75; P = 0.017; odds ratio [OR], 1.35); and, in a secondary analysis, surprisingly, it was significantly more frequent in probands who had TD alone than in those who had TD plus OCD (Fisher's exact test; P = 0.0006; OR, 2.29). Likewise, the higher expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was more frequent in TD probands than in controls (P = 0.024; OR, 1.33) and also in the TD alone group versus the TD plus OCD group (P = 0.0013; OR, 2.14). Furthermore, the rare gain-of-function SERT I425V variant was observed in 3 male siblings with TD and/or OCD and in their father. Thus, the cumulative count of SERT I425V becomes 1.57% in OCD/TD spectrum conditions versus 0.15% in controls, with a recalculated, family-adjusted significance of χ(2) = 15.03 (P < 0.0001; OR, 9.0; total worldwide genotyped, 2914). This report provides a unique combination of common and rare variants in one gene in TD, all of which are associated with SERT gain of function. Thus, altered SERT activity represents a potential contributor to serotonergic abnormalities in TD. The present results call for replication in a similarly intensively evaluated sample. © 2013 Movement Disorder Society.

Indexed as

FemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansMaleObsessive-Compulsive DisorderPolymorphism, Single NucleotidePsychiatric Status Rating ScalesSerotonin Plasma Membrane Transport ProteinsTourette SyndromeSerotonin Plasma Membrane Transport ProteinsSLC6A4 protein, human5-HTTLPRserotoninserotonin transporter (SERT)SERT isoleucine-to-valine substitution (I425V)SLC6A4Tourette's

Identifiers

PMID23630162
PMCPMC3766488
OpenAlexW1902737401

What OpenQuestion holds

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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.