ArticleFrontiers in psychiatry2023
Interactions of genetic risks for autism and the broad autism phenotypes.
Article in Frontiers in psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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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.
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Who cites it
9 citing papers in PubMed, 7 citations in OpenAlex.
- Broader autism phenotype, the default mode network, and brain entropy: A network-level hypothesis.Research in neurodiversity · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Broad autism phenotype and parental personality in parents of preschoolers with autism: associations with social and behavioral profile.Frontiers in child and adolescent psychiatry · 2026Article
- Sex Differences in the role of Additive Genetic Variants in Autism: A Systematic Review.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non-Regressive Autism: A Cross-Sectional Study.Autism research : official journal of the International Society for Autism Research · 2025Article
- Examining the Relationship Between Parental Broader Autism Phenotype Traits, Offspring Autism, and Parental Mental Health.Autism research : official journal of the International Society for Autism Research · 2025Article
- A Normative Model Representing Autistic Individuals Amidst Autism Spectrum Phenotypic Heterogeneity.Brain sciences · 2024Article
- Impact of interaction between individual genomes and preeclampsia on the severity of autism spectrum disorder symptoms.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Common polygenic risk and Methods: In our study, we investigated the individual and combined effects of polygenic risk, damaging DNVs (including those in ASD risk genes), and sex among 2,591 ASD simplex families in the Simons Simplex Collection. We also explored the interactions among these factors, along with the broad autism phenotypes of ASD probands and their unaffected siblings. Finally, we combined the effects of polygenic risk, damaging DNVs in ASD risk genes, and sex to explain the total liability of ASD phenotypic spectrum. Results: Our findings revealed that both polygenic risk and damaging DNVs contribute to an increased risk for ASD, with females exhibiting higher genetic burdens than males. ASD probands that carry damaging DNVs in ASD risk genes showed reduced polygenic risk. The effects of polygenic risk and damaging DNVs on autism broad phenotypes were inconsistent; probands with higher polygenic risk exhibited improvement in some behaviors, such as adaptive/cognitive behaviors, while those with damaging DNVs exhibited more severe phenotypes. Siblings with higher polygenic risk and damaging DNVs tended to have higher scores on broader autism phenotypes. Females exhibited more severe cognitive and behavioral problems compared to males among both ASD probands and siblings. The combination of polygenic risk, damaging DNVs in ASD risk genes, and sex explained 1-4% of the total liability of adaptive/cognitive behavior measurements. Conclusion: Our study revealed that the risk for ASD and the autism broad phenotypes likely arises from a combination of common polygenic risk, damaging DNVs (including those in ASD risk genes), and sex.
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