Evidence map›Paper›PMID 15547804›Full record

ArticleAmerican journal of human genetics2005

Genetic investigation of quantitative traits related to autism: use of multivariate polygenic models with ascertainment adjustment.

Yun Ju Sung, Geraldine Dawson, Jeffrey Munson, Annette Estes, Gerard D Schellenberg, Ellen M Wijsman

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 8% 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

56 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.

  1. Guideline
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  9. Social attention in anorexia nervosa and autism spectrum disorder: Role of social motivation.Autism : the international journal of research and practice · 2022
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  19. Infant social attention: an endophenotype of ASD-related traits?Journal of child psychology and psychiatry, and allied disciplines · 2017
    Article
  20. Article
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

6 authors at 4 institutions in 1 country.

Yun Ju SungDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195-7720, USA.
Geraldine Dawson
Jeffrey Munson
Annette Estes
Gerard D Schellenberg
Ellen M Wijsman
Center for Autism and Related Disorders · USCancer Research And Biostatistics · USGeriatric Research Education and Clinical Center · USUniversity of Washington · US

Funding

Neuroimaging in autismU19HD035465 · NICHD · UNIVERSITY OF WASHINGTON · PI DAWSON, GERALDINE · 2002 to 2006
$10.5M
PRECURSORS TO LANGUAGE IN AUTISMP01HD035465 · NICHD · UNIVERSITY OF WASHINGTON · PI SCHELLENBERG, GERARD DAVID · 1997 to 2001
$3.5M
THE GENETIC EPIDEMIOLOGY OF COMPLEX TRAITSR01GM046255 · NIGMS · UNIVERSITY OF WASHINGTON · PI THOMPSON, ELIZABETH ALISON · 1991 to 2007
$2.7M
NICHD NIH HHS P01 HD035465NICHD NIH HHS U19 HD035465NICHD NIH HHS U19 HD 35465NIGMS NIH HHS R01 GM046255NIGMS NIH HHS R01 GM 46255
6 · The paper itself

Abstract

Autism is a severe developmental disorder of unknown etiology but with evidence for genetic influences. Here, we provide evidence for a genetic basis of several quantitative traits that are related to autism. These traits, from the Broader Phenotype Autism Symptom Scale (BPASS), were measured in nuclear families, each ascertained through two probands affected by autism spectrum disorder. The BPASS traits capture the continuum of severity of impairments and may be more informative for genetic studies than are the discrete diagnoses of autism that have been used by others. Using a sample of 201 nuclear families consisting of a total of 694 individuals, we implemented multivariate polygenic models with ascertainment adjustment to estimate heritabilities and genetic and environmental correlations between these traits. Our ascertainment adjustment uses conditioning on the phenotypes of probands, requires no modeling of the ascertainment process, and is applicable to multiplex ascertainment and multivariate traits. This appears to be the first such implementation for multivariate quantitative traits. The marked difference between heritability estimates of the trait for language onset with and without an ascertainment adjustment (0.08 and 0.22, respectively) shows that conclusions are sensitive to whether or not an ascertainment adjustment is used. Among the five BPASS traits that were analyzed, the traits for social motivation and range of interest/flexibility show the highest heritability (0.19 and 0.16, respectively) and also have the highest genetic correlation (0.92). This finding suggests a shared genetic basis of these two traits and that they may be most promising for future gene mapping and for extending pedigrees by phenotyping additional relatives.

Indexed as

Quantitative Trait, HeritableAdolescentAdultAutistic DisorderChildChild, PreschoolFemaleHumansIntelligence TestsMaleModels, GeneticModels, StatisticalMultigene FamilySocial Adjustment

Identifiers

PMID15547804
PMCPMC1196434
OpenAlexW2023664755

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.