Evidence map›Paper›PMID 12192642›Full record

ArticleAmerican journal of human genetics2002

A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.

Mari Auranen, Raija Vanhala, Teppo Varilo, Kristin Ayers, Elli Kempas, Tero Ylisaukko-Oja, Janet S Sinsheimer, Leena Peltonen, Irma Järvelä

Abstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
83citing papers in PubMed, 3 pooled it
–field-weighted citation impact
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

83 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014
    Pooled it
  3. Pooled it
  4. Trial
  5. Trial
  6. Article
  7. Article
  8. Review
  9. Article
  10. Review
  11. Article
  12. Review
  13. Steroid Metabolites Support Evidence of Autism as a Spectrum.Behavioral sciences (Basel, Switzerland) · 2019
    Article
  14. Genetic Causes and Modifiers of Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2019
    Review
  15. Article
  16. Review
  17. Article
  18. Review
  19. Article
  20. Article

23 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

9 authors.

Mari AuranenDepartment of Molecular Medicine, National Public Health Institute, University of Helsinki, Finland.
Raija Vanhala
Teppo Varilo
Kristin Ayers
Elli Kempas
Tero Ylisaukko-Oja
Janet S Sinsheimer
Leena Peltonen
Irma Järvelä

Funding

Quantitative Trait Locus Mapping in Human PedigreesR37MH059490 · NIMH · TEXAS BIOMEDICAL RESEARCH INSTITUTE · PI BLANGERO, JOHN · 2001 to 2010
$6.8M
QUANTITATIVE TRAIT LOCUS MAPPING IN HUMAN PEDIGREESR01MH059490 · NIMH · SOUTHWEST FOUNDATION FOR BIOMEDICAL RES · PI BLANGERO, JOHN · 1998 to 2000
$426k
NIMH NIH HHS MH59490NIMH NIH HHS R01 MH059490NIMH NIH HHS R37 MH059490
6 · The paper itself

Abstract

To identify genetic loci for autism-spectrum disorders, we have performed a two-stage genomewide scan in 38 Finnish families. The detailed clinical examination of all family members revealed infantile autism, but also Asperger syndrome (AS) and developmental dysphasia, in the same set of families. The most significant evidence for linkage was found on chromosome 3q25-27, with a maximum two-point LOD score of 4.31 (Z(max )(dom)) for D3S3037, using infantile autism and AS as an affection status. Six markers flanking over a 5-cM region on 3q gave Z(max dom) >3, and a maximum parametric multipoint LOD score (MLS) of 4.81 was obtained in the vicinity of D3S3715 and D3S3037. Association, linkage disequilibrium, and haplotype analyses provided some evidence for shared ancestor alleles on this chromosomal region among affected individuals, especially in the regional subisolate. Additional potential susceptibility loci with two-point LOD scores >2 were observed on chromosomes 1q21-22 and 7q. The region on 1q21-22 overlaps with the previously reported candidate region for infantile autism and schizophrenia, whereas the region on chromosome 7q provided evidence for linkage 58 cM distally from the previously described autism susceptibility locus (AUTS1).

Indexed as

Chromosomes, Human, Pair 3Genetic Predisposition to DiseaseAdolescentAdultAutistic DisorderChildChild, PreschoolChromosome MappingFemaleGenetic TestingHumansMalePedigreePhenotype

Identifiers

PMID12192642
PMCPMC378535

What OpenQuestion holds

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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.