Evidence map›Paper›PMID 18469341›Full record

ArticleHuman molecular genetics2008

Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: evidence of epistasis and competitive binding.

Katherine E Burdick, Atsushi Kamiya, Colin A Hodgkinson, Todd Lencz, Pamela DeRosse, Koko Ishizuka, Sarah Elashvili, Hiroyuki Arai, David Goldman, Akira Sawa and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed, 1 pooled it
6.2field-weighted citation impact, top 3% 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

61 citing papers in PubMed, 1 synthesis or guideline pooled it, 110 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Gcap14 is a microtubule plus-end-tracking protein coordinating microtubule-actin crosstalk during neurodevelopment.Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  5. Review
  6. Nde1 and Ndel1: Outstanding Mysteries in Dynein-Mediated Transport.Frontiers in cell and developmental biology · 2022
    Review
  7. Mutations in DISC1 alter IPNeuronal signaling · 2021
    Review
  8. Behavioral Deficits in Mice with Postnatal Disruption ofCerebral cortex communications · 2021
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2018
    Review
  16. Article
  17. Article
  18. Article
  19. Review
  20. Article

1 more citing papers are in PubMed but not listed here.

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 5 institutions in 3 countries.

Katherine E BurdickDepartment of Psychiatry Research, The Zucker Hillside Hospital, North Shore-Long Island Jewish Health System, Glen Oaks, NY 11004, USA. kburdick@lij.edu
Atsushi Kamiya
Colin A Hodgkinson
Todd Lencz
Pamela DeRosse
Koko Ishizuka
Sarah Elashvili
Hiroyuki Arai
David Goldman
Akira Sawa
Anil K Malhotra
Johns Hopkins University · USAlbert Einstein College of Medicine · USNational Institute on Alcohol Abuse and Alcoholism · USDepartment of Health · IENorthwell Health · US

Funding

Integrative genetics with high throughput, multiplex genZ01AA000301 · NIAAA · NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM · PI GOLDMAN, DAVID · 1999 to 2008
$5.2M
Neurocognition as an endophenotype in bipolar disorderK23MH077807 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BURDICK, KATHERINE ELIZABETH · 2008 to 2012
$774k
The Genetics of Psychosis: Towards a Dimensional ApproachR00MH086756 · NIMH · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI DEROSSE, PAMELA · 2011 to 2013
$732k
The Genetics of Psychosis: Towards a Dimensional ApproachK99MH086756 · NIMH · FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH · PI DEROSSE, PAMELA · 2009 to 2010
$156k
Intramural NIH HHS Z01 AA000301NIMH NIH HHS K23 MH077807NIMH NIH HHS K99 MH086756NIMH NIH HHS R00 MH086756
6 · The paper itself

Abstract

DISC1 influences susceptibility to psychiatric disease and related phenotypes. Intact functions of DISC1 and its binding partners, NDEL1 and NDE1, are critical to neurodevelopmental processes aberrant in schizophrenia (SZ). Despite evidence of an NDEL1-DISC1 protein interaction, there have been no investigations of the NDEL1 gene or the relationship between NDEL1 and DISC1 in SZ. We genotyped six NDEL1 single-nucleotide polymorphisms (SNPs) in 275 Caucasian SZ patients and 200 controls and tested for association and interaction between the functional SNP Ser704Cys in DISC1 and NDEL1. We also evaluated the relationship between NDE1 and DISC1 genotype and SZ. Finally, in a series of in vitro assays, we determined the binding profiles of NDEL1 and NDE1, in relation to DISC1 Ser704Cys. We observed a single haplotype block within NDEL1; the majority of variation was captured by NDEL1 rs1391768. We observed a significant interaction between rs1391768 and DISC1 Ser704Cys, with the effect of NDEL1 on SZ evident only against the background of DISC1 Ser704 homozygosity. Secondary analyses revealed no direct relationship between NDE1 genotype and SZ; however, there was an opposite pattern of risk for NDE1 genotype when conditioned on DISC1 Ser704Cys, with NDE1 rs3784859 imparting a significant effect but only in the context of a Cys-carrying background. In addition, we report opposing binding patterns of NDEL1 and NDE1 to Ser704 versus Cys704, at the same DISC1 binding domain. These data suggest that NDEL1 significantly influences risk for SZ via an interaction with DISC1. We propose a model where NDEL1 and NDE1 compete for binding with DISC1.

Indexed as

Epistasis, GeneticGenetic Predisposition to DiseaseAdultBinding, CompetitiveCarrier ProteinsCase-Control StudiesCell LineCohort StudiesFemaleGenotypeHaplotypesHumansMaleMicrotubule-Associated ProteinsMiddle AgedNerve Tissue ProteinsCarrier ProteinsDISC1 protein, humanMicrotubule-Associated ProteinsNde1 protein, humanNDEL1 protein, humanNerve Tissue Proteins

Identifiers

PMID18469341
PMCPMC2486442
OpenAlexW2103785875

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.