Evidence map›Paper›PMID 23321619›Full record

ArticleEuropean journal of human genetics : EJHG2013

Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes.

Pablo R Moya, Nicholas H Dodman, Kiara R Timpano, Liza M Rubenstein, Zaker Rana, Ruby L Fried, Louis F Reichardt, Gary A Heiman, Jay A Tischfield, Robert A King and 3 more

Open access · bronzeAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
2.1field-weighted citation impact, top 13% 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, 45 citations in OpenAlex.

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  12. Bayesian localization of CNV candidates in WGS data within minutes.Algorithms for molecular biology : AMB · 2019
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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

13 authors at 11 institutions in 3 countries.

Pablo R MoyaLaboratory of Clinical Science, NIMH-Intramural Research Program, Bethesda, MD 20819, USA. moyap@mail.nih.gov
Nicholas H Dodman
Kiara R Timpano
Liza M Rubenstein
Zaker Rana
Ruby L Fried
Louis F Reichardt
Gary A Heiman
Jay A Tischfield
Robert A King
Marzena Galdzicka
Edward I Ginns
Jens R Wendland
National Institutes of Health · USEnvironmental and Occupational Health Sciences Institute · USOffice of Extramural Research · USRoche (Switzerland) · CHRutgers, The State University of New Jersey · USTufts University · USUMass Memorial Medical Center · USUniversity of California, San Francisco · USUniversity of Massachusetts Chan Medical School · USUniversity of Miami · 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
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 HHSNIMH NIH HHS R01 MH092293NIMH NIH HHS R01MH092293NIMH NIH HHS U24 MH068457
6 · The paper itself

Abstract

The recent finding that the neuronal cadherin gene CDH2 confers a highly significant risk for canine compulsive disorder led us to investigate whether missense variants within the human ortholog CDH2 are associated with altered susceptibility to obsessive-compulsive disorder (OCD), Tourette disorder (TD) and related disorders. Exon resequencing of CDH2 in 320 individuals identified four non-synonymous single-nucleotide variants, which were subsequently genotyped in OCD probands, Tourette disorder probands and relatives, and healthy controls (total N=1161). None of the four variants was significantly associated with either OCD or TD. One variant, N706S, was found only in the OCD/TD groups, but not in controls. By examining clinical data, we found there were significant TD-related phenotype differences between those OCD probands with and without the N845S variant with regard to the co-occurrence of TD (Fisher's exact test P=0.014, OR=6.03). Both N706S and N845S variants conferred reduced CDH2 protein expression in transfected cells. Although our data provide no overall support for association of CDH2 rare variants in these disorders considered as single entities, the clinical features and severity of probands carrying the uncommon non-synonymous variants suggest that CDH2, along with other cadherin and cell adhesion genes, is an interesting gene to pursue as a plausible contributor to OCD, TD and related disorders with repetitive behaviors, including autism spectrum disorders.

Indexed as

Mutation, MissenseAdultAntigens, CDBlotting, WesternCadherinsDNA Mutational AnalysisGenotypeHEK293 CellsHumansObsessive-Compulsive DisorderPhenotypePsychiatric Status Rating ScalesTourette SyndromeTransfectionAntigens, CDCadherinsCDH2 protein, human

Identifiers

PMID23321619
PMCPMC3722668
OpenAlexW2127117371

What OpenQuestion holds

Textmetadata
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.