ArticleBiological psychiatry2019
Novel Insight Into the Etiology of Autism Spectrum Disorder Gained by Integrating Expression Data With Genome-wide Association Statistics.
Article in Biological psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 96 citations in OpenAlex.
- Effectiveness of Virtual Reality Technology Interventions in Improving the Social Skills of Children and Adolescents With Autism: Systematic Review.Journal of medical Internet research · 2025Pooled it
- Update on pharmacogenomic approaches in the treatment of autism spectrum disorders.Psychopharmacology · 2026Review
- Identification of Mood Disorders Causal Genes by Integrating the Brain Proteome and Transcriptome.Molecular neurobiology · 2025Article
- Unraveling ADHD: genes, co-occurring traits, and developmental dynamics.Life science alliance · 2025Article
- Identifying novel chemical-related susceptibility genes for five psychiatric disorders through integrating genome-wide association study and tissue-specific 3'aQTL annotation datasets.European archives of psychiatry and clinical neuroscience · 2025Article
- Transcriptome-wide association study identifies genes associated with bladder cancer risk.Scientific reports · 2025Article
- Integrating transcriptomic and polygenic risk scores to enhance predictive accuracy for ischemic stroke subtypes.Human genetics · 2025Article
- Article
- Multiome-wide Association Studies: Novel Approaches for Understanding Diseases.Genomics, proteomics & bioinformatics · 2024Review
- Integration of multi-omics summary data reveals the role of N6-methyladenosine in neuropsychiatric disorders.Molecular psychiatry · 2024Article
- Harnessing transcriptomic signals for amyotrophic lateral sclerosis to identify novel drugs and enhance risk prediction.Heliyon · 2024Article
- Unveiling promising drug targets for autism spectrum disorder: insights from genetics, transcriptomics, and proteomics.Briefings in bioinformatics · 2024Article
- Integrating human endogenous retroviruses into transcriptome-wide association studies highlights novel risk factors for major psychiatric conditions.Nature communications · 2024Article
- Large-scale integrative analysis of juvenile idiopathic arthritis for new insight into its pathogenesis.Arthritis research & therapy · 2024Article
- Genetic relationship between the immune system and autism.Brain, behavior, & immunity - health · 2023Article
- The genetic relationships between brain structure and schizophrenia.Nature communications · 2023Article
- De novo network analysis reveals autism causal genes and developmental links to co-occurring traits.Life science alliance · 2023Article
- Identifying Novel Drug Targets for Epilepsy Through a Brain Transcriptome-Wide Association Study and Protein-Wide Association Study with Chemical-Gene-Interaction Analysis.Molecular neurobiology · 2023Article
- Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.Journal of autism and developmental disorders · 2023Article
- Multi-omic underpinnings of epigenetic aging and human longevity.Nature communications · 2023Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundA recent genome-wide association study (GWAS) of autism spectrum disorder (ASD) (n
methodsUsing FUSION software, ASD GWAS summary statistics were integrated with predictors of gene expression from 16 human datasets, including adult and fetal brains. A novel adaptation of established statistical methods was then used to test for enrichment within candidate pathways and specific tissues and at different stages of brain development. The proportion of ASD heritability explained by predicted expression of genes in the TWAS was estimated using stratified linkage disequilibrium score regression.
resultsThis study identified 14 genes as significantly differentially expressed in ASD, 13 of which were outside of known genome-wide significant loci (±500 kb). XRN2, a gene proximal to an ASD GWAS locus, was inferred to be significantly upregulated in ASD, providing insight into the functional consequence of this associated locus. One novel transcriptome-wide significant association from this study is the downregulation of PDIA6, which showed minimal evidence of association in the GWAS, and in gene-based analysis using MAGMA. Predicted gene expression in this study accounted for 13.0% of the total ASD single nucleotide polymorphism heritability.
conclusionsThis study has implicated several genes as significantly up/downregulated in ASD, providing novel and useful information for subsequent functional studies. This study also explores the utility of TWAS-based enrichment analysis and compares TWAS results with a functionally agnostic approach.
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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.