Evidence map›Paper›PMID 41332866›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Common and rare variant genetic contributions in African Americans with autism.

Matilde Cirnigliaro, Jennifer K Lowe, Alexander O Flynn-Carroll, Michi E Kumagai, David S Gibson, Jack M Fu, Shan Dong, Kangcheng Hou, Vamsee Pillalamarri, Anna M Abbacchi and 30 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

40 authors.

Matilde CirnigliaroDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.ORCID 0000-0001-6151-330X
Jennifer K LoweDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Alexander O Flynn-CarrollBioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.
Michi E KumagaiDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
David S GibsonDepartment of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Jack M FuCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Shan DongDepartment of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Kangcheng HouBioinformatics Interdepartmental Program, University of California Los Angeles, Los Angeles, CA, USA.
Vamsee PillalamarriDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Anna M AbbacchiDepartment of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.
Amanda C GulsrudDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Janet MillerAutism Genetic Resource Exchange, Autism Speaks, Los Angeles, CA, USA.
Yi ZhangDepartment of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.
Erin T GrahamDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Elizabeth O AkinyemiDepartments of Pediatrics, Neuroscience, and Psychiatry & Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY, USA.
Marshel F AdamsDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Amaris N ClayDepartment of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.
Stephanie A ArteagaDepartment of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Hailey ChoiDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Ryan M KochisDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Jorge E Peña-VelascoDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Jackson N HoekstraDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Aaron D BestermanDivision of Child and Adolescent Psychiatry, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-8671-1203
Sunil MehtaDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Tarik HadzicDivision of Child and Adolescent Psychiatry, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Rujuta B WilsonCenter for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Tashalee R BrownDivision of Child and Adolescent Psychiatry, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Leanna M HernandezDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-5816-7810
Natasha MarrusDepartment of Psychiatry, Division of Child and Adolescent Psychiatry, Washington University School of Medicine, St Louis, MO, USA.
Sophie MolholmDepartments of Pediatrics, Neuroscience, and Psychiatry & Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY, USA.
Cheryl KlaimanMarcus Autism Center, Children's Healthcare of Atlanta and Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Rita M CantorDepartment of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0003-2889-0992
Stephan J SandersDepartment of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0001-9112-5148
Dan E ArkingDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Bogdan PasaniucDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ami KlinMarcus Autism Center, Children's Healthcare of Atlanta and Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
John N ConstantinoDepartments of Pediatrics, Psychiatry and Behavioral Sciences, and Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Genetics of Neurodevelopment in African Americans (GENAA) Consortium
Daniel H GeschwindDepartment of Psychiatry and Biobehavioral Sciences, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.

Funding

Autism Genetics, Phase II: Increasing Representation of Human DiversityR01MH100027 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2013 to 2024
$31.7M
Autism Genetics Phase II: Increasing Representation of Human DiversityRF1MH100027 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GESCHWIND, DANIEL H · 2025 to 2025
$7.0M
NIMH NIH HHS R01 MH100027NIMH NIH HHS RF1 MH100027
6 · The paper itself

Abstract

The absence of non-European cohorts in genetic studies of neurodevelopmental and neuropsychiatric disorders severely limits the understanding of their full genetic architecture and undermines implementation of precision medicine. Here, we directly addressed this issue by recruiting African Americans (AfrAms) with autism spectrum disorder (ASD) and analyzing their rare and common genetic variation. We performed both global and local ancestry analyses to characterize the complex patterns of admixture at the individual level and compare genetic factors between European (EUR) and African (AFR) genetically inferred ancestries (GIAs) across multiple cohorts in a total of 38,483 autistic individuals. We showed consistent common variant genetic effect sizes for ASD in EUR and AFR GIAs through genome-wide association studies. We demonstrated the limited transferability of EUR-derived polygenic scores (PGSs) based on polygenic transmission disequilibrium and ancestry partial PGS analysis. We found significant autism association for high-impact rare copy number variants in both GIAs. We identified a set of candidate ASD loci based on rare deletions observed in AFR GIA carriers, including

Indexed as

Africanautism spectrum disorderde novo PTVs and missense variantsdevelopmental disorderEuropeangene discoverygenetically inferred ancestrygenotypingGWASlocal ancestryneurodevelopmental disorderPGSpTDTrare CNVswhole-exome sequencing

Identifiers

PMID41332866
PMCPMC12668067

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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.