Evidence map›Paper›PMID 17579608›Full record

ArticleMolecular psychiatry2008

Association of DISC1 with autism and Asperger syndrome.

H Kilpinen, T Ylisaukko-Oja, W Hennah, O M Palo, T Varilo, R Vanhala, T Nieminen-von Wendt, L von Wendt, T Paunio, L Peltonen

Abstract read
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In one paragraph

Article in Molecular psychiatry, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
101citing papers in PubMed, 1 pooled it
5.6field-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

101 citing papers in PubMed, 1 synthesis or guideline pooled it, 192 citations in OpenAlex.

  1. Pooled it
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  5. Review
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  15. Autism Spectrum Disorder-Related Syndromes: Modeling withInternational journal of molecular sciences · 2019
    Review
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41 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

10 authors at 3 institutions in 2 countries.

H KilpinenDepartment of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland.
T Ylisaukko-Oja
W Hennah
O M Palo
T Varilo
R Vanhala
T Nieminen-von Wendt
L von Wendt
T Paunio
L Peltonen
Institute for Molecular Medicine Finland · FIHelsinki Children's Hospital · FIUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The DISC1 gene at 1q42 has generated considerable interest in various psychiatric diseases, since a balanced translocation interrupting the gene was found to cosegregate with schizophrenia and related mental illnesses in a large Scottish pedigree. To date, linkage and association findings to this locus have been replicated in several study samples ascertained for psychotic disorders. However, the biological function of DISC1 in neuronal development would suggest a potential role for this gene also in other, early onset neuropsychiatric disorders. Here we have addressed the allelic diversity of the DISC1, DISC2 and TRAX genes, clustered in 1q42, in Finnish families ascertained for infantile autism (97 families, n(affected)=138) and Asperger syndrome (29 families, n(affected)=143). We established association between autism and a DISC1 intragenic microsatellite (D1S2709; P=0.004). In addition, evidence for association to Asperger syndrome was observed with an intragenic single nucleotide polymorphism (SNP) of DISC1 (rs1322784; P=0.0058), as well as with a three-SNP haplotype (P=0.0013) overlapping the HEP3 haplotype, that was previously observed to associate with schizophrenia in Finnish families. The strongest associations were obtained with broad diagnostic categories for both disorders and with affected males only, in agreement with the previous sex-dependent effects reported for DISC1. These results would further support the involvement of DISC1 gene also in the etiopathogenesis of early onset neuropsychiatric disorders.

Indexed as

Genetic Predisposition to DiseaseAsperger SyndromeAutistic DisorderChild, PreschoolDNA-Binding ProteinsFamily HealthFemaleFinlandHumansInfantLinkage DisequilibriumMaleMicrosatellite RepeatsNerve Tissue ProteinsPolymorphism, Single NucleotideRNA, Long NoncodingDISC1 protein, humanDISC2 gene product, humanDNA-Binding ProteinsNerve Tissue ProteinsRNA, Long NoncodingRNA, MessengerTSNAX protein, human

Identifiers

PMID17579608
OpenAlexW2005140636

What OpenQuestion holds

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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.