Evidence map›Paper›PMID 35697691›Full record

ArticleTranslational psychiatry2022

Clinical autism subscales have common genetic liabilities that are heritable, pleiotropic, and generalizable to the general population.

Taylor R Thomas, Tanner Koomar, Lucas G Casten, Ashton J Tener, Ethan Bahl, Jacob J Michaelson

Abstract read
In one paragraph

Article in Translational psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–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

15 citing papers in PubMed.

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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.

Taylor R ThomasDepartment of Psychiatry, University of Iowa, Iowa City, IA, USA.
Tanner KoomarDepartment of Psychiatry, University of Iowa, Iowa City, IA, USA.
Lucas G CastenDepartment of Psychiatry, University of Iowa, Iowa City, IA, USA.ORCID 0000-0001-7690-6405
Ashton J TenerDepartment of Psychiatry, University of Iowa, Iowa City, IA, USA.
Ethan BahlDepartment of Psychiatry, University of Iowa, Iowa City, IA, USA.
Jacob J MichaelsonDepartment of Psychiatry, University of Iowa, Iowa City, IA, USA. jacob-michaelson@uiowa.edu.ORCID 0000-0001-9713-0992

Funding

University of Iowa Hawkeye Intellectual and Developmental Disabilities Research Center (Hawk-IDDRC)P50HD103556 · NICHD · UNIVERSITY OF IOWA · PI EDWIN TED G. ABEL, Lane Strathearn · 2021 to 2026
$8.5M
PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008629 · NIGMS · UNIVERSITY OF IOWA · PI EBERL, DANIEL F · 1997 to 2021
$4.1M
Understanding the biology of language impairment through whole genome sequencingR01DC014489 · NIDCD · UNIVERSITY OF IOWA · PI MICHAELSON, JACOB JAMES · 2016 to 2020
$3.1M
Estimating the impact of genetic variants on the brain in space and timeR01MH105527 · NIMH · UNIVERSITY OF IOWA · PI MICHAELSON, JACOB JAMES · 2015 to 2017
$1.2M
NICHD NIH HHS P50 HD103556NICHD NIH HHS P50HD103556NIDCD NIH HHS DC014489NIDCD NIH HHS R01 DC014489NIGMS NIH HHS T32 GM008629NIH HHS T32GM008629NIMH NIH HHS MH105527NIMH NIH HHS R01 MH105527
6 · The paper itself

Abstract

The complexity of autism's phenotypic spectra is well-known, yet most genetic research uses case-control status as the target trait. It is undetermined if autistic symptom domain severity underlying this heterogeneity is heritable and pleiotropic with other psychiatric and behavior traits in the same manner as autism case-control status. In N = 6064 autistic children in the SPARK cohort, we investigated the common genetic properties of twelve subscales from three clinical autism instruments measuring autistic traits: the Social Communication Questionnaire (SCQ), the Repetitive Behavior Scale-Revised (RBS-R), and the Developmental Coordination Disorder Questionnaire (DCDQ). Educational attainment polygenic scores (PGS) were significantly negatively correlated with eleven subscales, while ADHD and major depression PGS were positively correlated with ten and eight of the autism subscales, respectively. Loneliness and neuroticism PGS were also positively correlated with many subscales. Significant PGS by sex interactions were found-surprisingly, the autism case-control PGS was negatively correlated in females and had no strong correlation in males. SNP-heritability of the DCDQ subscales ranged from 0.04 to 0.08, RBS-R subscales ranged from 0.09 to 0.24, and SCQ subscales ranged from 0 to 0.12. GWAS in SPARK followed by estimation of polygenic scores (PGS) in the typically-developing ABCD cohort (N = 5285), revealed significant associations of RBS-R subscale PGS with autism-related behavioral traits, with several subscale PGS more strongly correlated than the autism case-control PGS. Overall, our analyses suggest that the clinical autism subscale traits show variability in SNP-heritability, PGS associations, and significant PGS by sex interactions, underscoring the heterogeneity in autistic traits at a genetic level. Furthermore, of the three instruments investigated, the RBS-R shows the greatest evidence of genetic signal in both (1) autistic samples (greater heritability) and (2) general population samples (strongest PGS associations).

Indexed as

Autism Spectrum DisorderAutistic DisorderChildCommunicationFemaleHumansMaleMultifactorial InheritancePhenotype

Identifiers

PMID35697691
PMCPMC9192633

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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.