Evidence map›Paper›PMID 11481586›Full record

ArticleAmerican journal of human genetics2001

A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p.

International Molecular Genetic Study of Autism Consortium (IMGSAC)

Abstract read
In one paragraph

Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 192 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
192citing papers in PubMed, 4 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

192 citing papers in PubMed, 4 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. Guideline
  4. Pooled it
  5. Trial
  6. Trial
  7. Trial
  8. DSM-5 based algorithms for the Autism Diagnostic Interview-Revised for children ages 4-17 years.Journal of child psychology and psychiatry, and allied disciplines · 2025
    Article
  9. Article
  10. Cortex-SpecificThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Article
  11. Review
  12. Article
  13. Genes · 2021
    Article
  14. Genes · 2021
    Review
  15. Review
  16. Article
  17. Article
  18. Novel aspects of enteric serotonergic signaling in health and brain-gut disease.American journal of physiology. Gastrointestinal and liver physiology · 2020
    Review
  19. Review
  20. Review

132 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

1 author.

International Molecular Genetic Study of Autism Consortium (IMGSAC)

Funding

ZIPRASIDONE TREATMENT OF TOURETTE'S SYNDROME IN CHILDRENM01RR006022 · NCRR · YALE UNIVERSITY · PI KESSLER, DAVID A · 1990 to 2003
$6.7M
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 RR006022NCRR NIH HHS MO1 RR06022NICHD NIH HHS 5-P01-HD-35482NICHD NIH HHS P01 HD035482NIMH NIH HHS K02 MH01389NIMH NIH HHS K05 MH01196Wellcome Trust
6 · The paper itself

Abstract

Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.

Indexed as

Chromosomes, Human, Pair 16Chromosomes, Human, Pair 2Chromosomes, Human, Pair 7AllelesAutistic DisorderGenetic Predisposition to DiseaseGenetic TestingHumansMolecular Sequence Data

Identifiers

PMID11481586
PMCPMC1235486

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.