Evidence map›Paper›PMID 14515139›Full record

ArticleMolecular psychiatry2003

Analysis of reelin as a candidate gene for autism.

E Bonora, K S Beyer, J A Lamb, J R Parr, S M Klauck, A Benner, M Paolucci, A Abbott, I Ragoussis, A Poustka and 3 more

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular psychiatry, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 2 pooled it
6.3field-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

46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 128 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. TheJournal of clinical medicine · 2019
    Review
  11. Review
  12. Article
  13. Article
  14. Review
  15. Reelin and Neuropsychiatric Disorders.Frontiers in cellular neuroscience · 2016
    Review
  16. RELN Mutations in Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2016
    Review
  17. Review
  18. Article
  19. 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

13 authors at 5 institutions in 2 countries.

E BonoraThe Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
K S Beyer
J A Lamb
J R Parr
S M Klauck
A Benner
M Paolucci
A Abbott
I Ragoussis
A Poustka
A J Bailey
A P Monaco
International Molecular Genetic Study of Autism (IMGSAC)
Centre for Human Genetics · GBGerman Cancer Research Center · DEUniversity of Oxford · GBPsychiatry Research Trust · GBDKFZ-ZMBH Alliance · DE

Funding

NEUROIMAGING STUDIES OF AUTISM AND ASPERGER'S DISORDERP01HD035482 · NICHD · YALE UNIVERSITY · PI CICCHETTI, DOMINICK · 1997 to 2001
$3.9M
MOLECULAR GENETIC STUDIES OF CHILD PSYCHOPATHOLOGYK02MH001389 · NIMH · UNIVERSITY OF CHICAGO · PI COOK, EDWIN H · 1997 to 2001
$201k
DIAGNOSIS AND FOLLOWUP STUDIES OF AUTISTIC CHILDRENK05MH001196 · NIMH · UNIVERSITY OF CHICAGO · PI LORD, CATHERINE · 1994 to 1998
–
NCRR NIH HHS M01 RR01389NICHD NIH HHS 5-P01-HD-35482-02NIMH NIH HHS K02 MH01389NIMH NIH HHS K05 MH01196
6 · The paper itself

Abstract

Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify relevant gene(s) and report here the analysis of reelin (RELN), a gene located under our peak of linkage. Screening RELN for DNA changes identified novel missense variants absent in a large control group; however, the low frequency of these mutations does not explain the relatively strong linkage results on 7q. Furthermore, analysis of a previously reported triplet repeat polymorphism and intragenic single nucleotide polymorphisms, using the transmission disequilibrium test, provided no evidence for association with autism in IMGSAC and German singleton families. The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.

Indexed as

Linkage DisequilibriumAutistic DisorderCell Adhesion Molecules, NeuronalExonsExtracellular Matrix ProteinsFemaleHumansMaleMolecular Sequence DataMutation, MissenseNerve Tissue ProteinsPolymorphism, Single NucleotideReelin ProteinSerine EndopeptidasesCell Adhesion Molecules, NeuronalExtracellular Matrix ProteinsNerve Tissue ProteinsReelin ProteinRELN protein, humanSerine Endopeptidases

Identifiers

PMID14515139
OpenAlexW2127978631

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.