ArticlePLoS genetics2021
Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder.
Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- POU3F2 regulates canonical Wnt signalling via SOX13 and ADNP to expand the neural progenitor population.Brain : a journal of neurology · 2025Article
- Article
- Interpreting polygenic score effects in sibling analysis.PloS one · 2024Article
- eQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD).Translational psychiatry · 2023Article
- Modernising autism spectrum disorder model engineering and treatmentWorld journal of clinical cases · 2023Review
- Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.Journal of personalized medicine · 2022Review
- SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits.Genome biology · 2021Article
- PUMAS: fine-tuning polygenic risk scores with GWAS summary statistics.Genome biology · 2021Article
- Molecular Dysregulation in Autism Spectrum Disorder.Journal of personalized medicine · 2021Review
- Estimating genetic nurture with summary statistics of multigenerational genome-wide association studies.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Placental DNA methylation changes and the early prediction of autism in full-term newborns.PloS one · 2021Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Recent advances in consortium-scale genome-wide association studies (GWAS) have highlighted the involvement of common genetic variants in autism spectrum disorder (ASD), but our understanding of their etiologic roles, especially the interplay with rare variants, is incomplete. In this work, we introduce an analytical framework to quantify the transmission disequilibrium of genetically regulated gene expression from parents to offspring. We applied this framework to conduct a transcriptome-wide association study (TWAS) on 7,805 ASD proband-parent trios, and replicated our findings using 35,740 independent samples. We identified 31 associations at the transcriptome-wide significance level. In particular, we identified POU3F2 (p = 2.1E-7), a transcription factor mainly expressed in developmental brain. Gene targets regulated by POU3F2 showed a 2.7-fold enrichment for known ASD genes (p = 2.0E-5) and a 2.7-fold enrichment for loss-of-function de novo mutations in ASD probands (p = 7.1E-5). These results provide a novel connection between rare and common variants, whereby ASD genes affected by very rare mutations are regulated by an unlinked transcription factor affected by common genetic variations.
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Registered trials
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.