Evidence map›Paper›PMID 23990902›Full record

ArticlePloS one2013

Characterization of SLITRK1 variation in obsessive-compulsive disorder.

Uzoezi Ozomaro, Guiqing Cai, Yuji Kajiwara, Seungtai Yoon, Vladimir Makarov, Richard Delorme, Catalina Betancur, Stephan Ruhrmann, Peter Falkai, Hans Jörgen Grabe and 8 more

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 2 pooled it
5.0field-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

24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 53 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.Tremor and other hyperkinetic movements (New York, N.Y.) · 2019
    Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. OCDB: a database collecting genes, miRNAs and drugs for obsessive-compulsive disorder.Database : the journal of biological databases and curation · 2015
    Article
  18. Review
  19. Genetics of obsessive-compulsive disorder and related disorders.The Psychiatric clinics of North America · 2014
    Review
  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

18 authors at 9 institutions in 3 countries.

Uzoezi OzomaroJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America ; Department of Neuroscience, University of Miami Miller School of Medicine, Miami, Florida, United States of America.
Guiqing Cai
Yuji Kajiwara
Seungtai Yoon
Vladimir Makarov
Richard Delorme
Catalina Betancur
Stephan Ruhrmann
Peter Falkai
Hans Jörgen Grabe
Wolfgang Maier
Michael Wagner
Leonhard Lennertz
Rainald Moessner
Dennis L Murphy
Joseph D Buxbaum
Stephan Züchner
Dorothy E Grice
Icahn School of Medicine at Mount Sinai · USUniversity of Bonn · DEAllen Institute for Brain Science · USDr. John T. Macdonald Foundation · USInstitut Pasteur · FRNational Institute of Mental Health · USSorbonne Université · FRUniversität Greifswald · DEUniversity of Cologne · DE

Funding

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
Genetic and Functional Analysis of the Obsessive-Compulsive SpectrumF31MH086275 · NIMH · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI OZOMARO, UZOEZI · 2010 to 2012
$136k
NIMH NIH HHS F31 MH086275NIMH NIH HHS F31MH086275
6 · The paper itself

Abstract

Obsessive compulsive disorder (OCD) is a syndrome characterized by recurrent and intrusive thoughts and ritualistic behaviors or mental acts that a person feels compelled to perform. Twin studies, family studies, and segregation analyses provide compelling evidence that OCD has a strong genetic component. The SLITRK1 gene encodes a developmentally regulated stimulator of neurite outgrowth and previous studies have implicated rare variants in this gene in disorders in the OC spectrum, specifically Tourette syndrome (TS) and trichotillomania (TTM). The objective of the current study was to evaluate rare genetic variation in SLITRK1 in risk for OCD and to functionally characterize associated coding variants. We sequenced SLITRK1 coding exons in 381 individuals with OCD as well as in 356 control samples and identified three novel variants in seven individuals. We found that the combined mutation load in OCD relative to controls was significant (p = 0.036). We identified a missense N400I change in an individual with OCD, which was not found in more than 1000 control samples (P<0.05). In addition, we showed the the N400I variant failed to enhance neurite outgrowth in primary neuronal cultures, in contrast to wildtype SLITRK1, which enhanced neurite outgrowth in this assay. These important functional differences in the N400I variant, as compared to the wildtype SLITRK1 sequence, may contribute to OCD and OC spectrum symptoms. A synonymous L63L change identified in an individual with OCD and an additional missense change, T418S, was found in four individuals with OCD and in one individual without an OCD spectrum disorder. Examination of additional samples will help assess the role of rare SLITRK1 variation in OCD and in related psychiatric illness.

Indexed as

AdultAmino Acid SequenceAnimalsBrainCase-Control StudiesChildFemaleGenetic VariationHumansMaleMembrane ProteinsMental DisordersMiceMiddle AgedMolecular Sequence DataMutationMembrane ProteinsNerve Tissue ProteinsSLITRK1 protein, humanSLITRK1 protein, mouse

Identifiers

PMID23990902
PMCPMC3749144
OpenAlexW2090505689

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.