Evidence map›Paper›PMID 38877467›Full record

ArticleMolecular autism2024

Phenotypic and ancestry-related assortative mating in autism.

Jing Zhang, J Dylan Weissenkampen, Rachel L Kember, iPSYCH Consortium, Jakob Grove, Anders D Børglum, Elise B Robinson, Edward S Brodkin, Laura Almasy, Maja Bucan and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular autism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Jing ZhangDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
J Dylan WeissenkampenDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Rachel L KemberDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.
iPSYCH Consortium
Jakob GroveCenter for Genomics and Personalized Medicine, Aarhus University, Aarhus, Denmark.
Anders D BørglumCenter for Genomics and Personalized Medicine, Aarhus University, Aarhus, Denmark.
Elise B RobinsonStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Edward S BrodkinDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.
Laura AlmasyDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Maja BucanDepartment of Genetics, University of Pennsylvania, Philadelphia, PA, USA.
Ronnie SebroDepartment of Radiology, Mayo Clinic, Jacksonville, FL, USA. rsebro@gmail.com.

Funding

Translational Research Support CoreP30ES013508 · NIEHS · UNIVERSITY OF PENNSYLVANIA · PI Trevor M Penning · 2006 to 2026
$35.3M
Pre-emptive conditioning of the ischemic heartR01HL093415 · NHLBI · UNIV OF MED/DENT OF NJ-NJ MEDICAL SCHOOL · PI VATNER, DOROTHY EILEEN · 2009 to 2012
$1.6M
NHLBI NIH HHS R01 HL093415NIEHS NIH HHS P30 ES013508
6 · The paper itself

Abstract

backgroundPositive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population.

methodsTo address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families).

resultsWe found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|> 0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification.

conclusionsThis study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for < 5% of the fractional change in the estimate of the phenotypic AM. Future studies are needed to evaluate if the small increase of long-range LD induced by ancestry-related AM has impact on the downstream analysis.

Indexed as

Autistic DisorderLinkage DisequilibriumPhenotypeAdultChildFemaleGenetic Predisposition to DiseaseHumansIntellectual DisabilityMaleMultifactorial InheritancePolymorphism, Single NucleotideAssortative matingAutismGenetic ancestryIntellectual disabilityLinkage disequilibriumPolygenic scores

Identifiers

PMID38877467
PMCPMC11177537

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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.