Evidence map›Paper›PMID 22617815›Full record

ArticlePsychiatric genetics2012

Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder.

Jeremy Veenstra-VanderWeele, Tim Xu, Alicia M Ruggiero, Lauren R Anderson, Shaine T Jones, Joseph A Himle, James L Kennedy, Margaret A Richter, Gregory L Hanna, Paul D Arnold

Abstract read
In one paragraph

Article in Psychiatric genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
3.9field-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

14 citing papers in PubMed, 23 citations in OpenAlex.

  1. Article
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  5. Review
  6. OCD candidate geneProceedings of the National Academy of Sciences of the United States of America · 2017
    Article
  7. Glutamate Genetics in Obsessive-Compulsive Disorder: A Review.Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent · 2017
    Article
  8. Review
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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

10 authors at 2 institutions in 1 country.

Jeremy Veenstra-VanderWeeleDepartment of Psychiatry, University of Vanderbilt, Nashville, Tennessee, USA. j.vvw@vanderbilt.edu
Tim Xu
Alicia M Ruggiero
Lauren R Anderson
Shaine T Jones
Joseph A Himle
James L Kennedy
Margaret A Richter
Gregory L Hanna
Paul D Arnold
University of Michigan–Ann Arbor · USVanderbilt University · US

Funding

VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
The Vanderbilt Institute for Clinical and Translational Research (VICTR) KL2KL2RR024977 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$3.0M
The Vanderbilt Institute for Clinical and Translational Research (VICTR) TL1TL1RR024978 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$1.3M
Murine Genetic Models of AutismK08MH081066 · NIMH · VANDERBILT UNIVERSITY · PI VEENSTRA-VANDERWEELE, JEREMY · 2007 to 2011
$832k
MOLECULAR GENETICS OF OBSESSIVE COMPULSIVE DISORDERR01MH058376 · NIMH · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HANNA, GREGORY L. · 1999 to 2001
$731k
FAMILY STUDY OF OBSESSIVE-COMPULSIVE DISORDERK20MH001065 · NIMH · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HANNA, GREGORY L. · 1993 to 1997
–
NCRR NIH HHS KL2 RR024977NCRR NIH HHS RR024975NCRR NIH HHS TL1 RR024978NCRR NIH HHS UL1 RR024975NIMH NIH HHS K08 MH081066NIMH NIH HHS MH01065NIMH NIH HHS MH081066NIMH NIH HHS MH58376NIMH NIH HHS R01 MH058376
6 · The paper itself

Abstract

Several studies have found that the neuronal glutamate transporter gene SLC1A1/EAAC1 is associated with obsessive-compulsive disorder (OCD), with a stronger association in males. Previous studies have primarily focused on common single-nucleotide polymorphisms, rather than rare functional variants that are likely to have larger effects. We screened 184 males with OCD for rare variation in SLC1A1 exons; however, no new coding variation was found. When combined with previous screens, only one SLC1A1 amino acid variant has been detected among the 841 individuals screened, which is less than for other neurotransmitter transporter genes (P=0.0001). We characterized the function of the one SLC1A1 missense variant reported previously in OCD, Thr164Ala, and found that the Ala164 allele leads to decreased Vmax and Km (P<0.0001) in transfected human embryonic kidney cells. Further work will be necessary to understand the impact of this rare SLC1A1/EAAC1 Ala164 variant on neuronal function and circuitry relevant to OCD.

Indexed as

Genetic Predisposition to DiseaseGenetic TestingAdolescentAdultChildExcitatory Amino Acid Transporter 3Glutamic AcidHumansKineticsMaleMiddle AgedObsessive-Compulsive DisorderPolymorphism, Single NucleotideSequence Analysis, DNAYoung AdultExcitatory Amino Acid Transporter 3Glutamic AcidSLC1A1 protein, human

Identifiers

PMID22617815
PMCPMC6486951
OpenAlexW2054944592

What OpenQuestion holds

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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.