Evidence map›Paper›PMID 9545402›Full record

ArticleAmerican journal of human genetics1998

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers.

E H Cook, R Y Courchesne, N J Cox, C Lord, D Gonen, S J Guter, A Lincoln, K Nix, R Haas, B L Leventhal and 1 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
123citing papers in PubMed, 5 pooled it
12.5field-weighted citation impact, top 1% 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

123 citing papers in PubMed, 5 syntheses or guidelines pooled it, 369 citations in OpenAlex.

  1. Pooled it
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  5. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2008
    Guideline
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  8. GABAFrontiers in pharmacology · 2026
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63 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

11 authors at 3 institutions in 1 country.

E H CookDepartment of Psychiatry, University of Chicago, Chicago, IL 60637, USA. ed@yoda.bsd.uchicago.edu
R Y Courchesne
N J Cox
C Lord
D Gonen
S J Guter
A Lincoln
K Nix
R Haas
B L Leventhal
E Courchesne
University of Chicago · USCenter for Autism and Related Disorders · USUniversity of California San Diego · US

Funding

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
–
GENETIC STUDY OF AUTISTIC CHILDREN AND ADOLESCENTSR01MH052223 · NIMH · UNIVERSITY OF CHICAGO · PI COOK, EDWIN H · 1995 to 1999
–
NIMH NIH HHS 5 K02 MH01389NIMH NIH HHS K05 MH01196NIMH NIH HHS R01 MH52223
6 · The paper itself

Abstract

Autistic disorder is a complex genetic disease. Because of previous reports of individuals with autistic disorder with duplications of the Prader-Willi/Angelman syndrome critical region, we screened several markers across the 15q11-13 region, for linkage disequilibrium. One hundred forty families, consisting predominantly of a child with autistic disorder and both parents, were studied. Genotyping was performed by use of multiplex PCR and capillary electrophoresis. Two children were identified who had interstitial chromosome 15 duplications and were excluded from further linkage-disequilibrium analysis. Use of the multiallelic transmission-disequilibrium test (MTDT), for nine loci on 15q11-13, revealed linkage disequilibrium between autistic disorder and a marker in the gamma-aminobutyric acidA receptor subunit gene, GABRB3 155CA-2 (MTDT 28.63, 10 df, P=.0014). No evidence was found for parent-of-origin effects on allelic transmission. The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder.

Indexed as

Chromosomes, Human, Pair 15Linkage DisequilibriumAutistic DisorderChildChromosome MappingFemaleGenetic MarkersHumansMaleGenetic Markers

Identifiers

PMID9545402
PMCPMC1377089
OpenAlexW2159457615

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.