Evidence map›Paper›PMID 14966474›Full record

ArticleMolecular psychiatry2004

Genome-wide scan for loci of Asperger syndrome.

T Ylisaukko-oja, T Nieminen-von Wendt, E Kempas, S Sarenius, T Varilo, L von Wendt, L Peltonen, I Järvelä

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Molecular psychiatry, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 3 pooled it
5.7field-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

28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 91 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Variants in several genomic regions associated with asperger disorder.Autism research : official journal of the International Society for Autism Research · 2010
    Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Asperger syndrome.European child & adolescent psychiatry · 2009
    Review
  13. Asperger's syndrome in adulthood.Deutsches Arzteblatt international · 2009
    Review
  14. Review
  15. Article
  16. Article
  17. Article
  18. Mouse behavioral assays relevant to the symptoms of autism.Brain pathology (Zurich, Switzerland) · 2007
    Review
  19. 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

8 authors at 3 institutions in 1 country.

T Ylisaukko-ojaDepartment of Molecular Medicine, National Public Health Institute, Biomedicum, PO Box 104, 00251 Helsinki, Finland. irma.jarvela@hus.fi
T Nieminen-von Wendt
E Kempas
S Sarenius
T Varilo
L von Wendt
L Peltonen
I Järvelä
Helsinki Children's Hospital · FIInstitute for Molecular Medicine Finland · FIUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Asperger syndrome (AS), characterised by inadequate social interaction, lack of empathy and a dependence of routines and rituals, is classified as belonging to the autism spectrum disorders (DSM-IV and ICD-10). Although the prevalence of AS has been estimated to range from 0.3 up to 48.4 per 10 000, the phenotype still remains relatively unrecognised by clinicians. Several reports, including the original description by Hans Asperger (1944), have suggested that AS has a strong genetic component. Here, we have performed a genome-wide scan on Finnish families ascertained for AS with a strictly defined phenotype. In the initial scan, Z(max)>1.5 was observed on nine chromosomal regions, 1q21-22, 3p14-24, 3q25-27, 4p14, 4q32, 6p25, 6q16, 13q31-33 and 18p11. In the fine mapping stage, the highest two-point LOD scores were observed on chromosomes 1q21-22 (D1S484, Z(max dom)=3.58), 3p14-24 (D3S2432, Z(max dom)=2.50) and 13q31-33 (D13S793, Z(max dom)=1.59). The loci on 1q21-22 and 3p14-24 overlap with previously published autism susceptibility loci, and the loci on 1q21-22 and 13q31-33 overlap with the reported schizophrenia susceptibility loci. The present study is the first genome-wide screen in AS and therefore replication data sets are needed to evaluate further the significance of the AS-loci identified here.

Indexed as

Chromosomes, HumanGenomicsAsperger SyndromeChromosomes, Human, Pair 1Chromosomes, Human, Pair 13Chromosomes, Human, Pair 3FemaleFinlandGenetic Predisposition to DiseaseHumansMaleMicrosatellite RepeatsPedigreePhenotype

Identifiers

PMID14966474
OpenAlexW1971045450

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.