ArticleMolecular psychiatry2014
Predicting the diagnosis of autism spectrum disorder using gene pathway analysis.
Article in Molecular psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
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Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 142 citations in OpenAlex.
- Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.Molecular brain · 2020Pooled it
- The Autism Spectrum Disorders Stem Cell Resource at Children's Hospital of Orange County: Implications for Disease Modeling and Drug Discovery.Stem cells translational medicine · 2014Trial
- STX209 (arbaclofen) for autism spectrum disorders: an 8-week open-label study.Journal of autism and developmental disorders · 2014Trial
- Exploring the use of machine and deep learning in genome-wide association studies: a comprehensive review.BioData mining · 2026Review
- Identification of Serum Proteome in Children with Autism Spectrum Disorder.Balkan journal of medical genetics : BJMG · 2025Article
- Single-Cell Transcriptomic Profiling Reveals Regional Differences in the Prefrontal and Entorhinal Cortex of Alzheimer's Disease Brain.International journal of molecular sciences · 2025Article
- Atypical dynamic neural configuration in autism spectrum disorder and its relationship to gene expression profiles.European child & adolescent psychiatry · 2025Article
- Metabotropic glutamate receptor genetic variants and peripheral receptor expression affects trait scores of autistic probands.Scientific reports · 2024Article
- Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder.Irish journal of medical science · 2023Article
- Glutamate receptor genetic variants affected peripheral glutamatergic transmission and treatment induced improvement of Indian ADHD probands.Scientific reports · 2023Article
- Article
- Case Report: Clinical delineation ofFrontiers in neurology · 2023Article
- Gene×environment interactions in autism spectrum disorders.Current topics in developmental biology · 2023Review
- Pathophysiological Roles of Auxiliary Calcium Channel αHandbook of experimental pharmacology · 2023Article
- Advanced theragnostics for the central nervous system (CNS) and neurological disorders using functional inorganic nanomaterials.Advanced drug delivery reviews · 2023Review
- Association between Downstream Taste Signaling Genes, Oral Microbiome, and Severe Early Childhood Caries.International journal of molecular sciences · 2022Article
- Family-Based Cohort Association Study of PRKCB1, CBLN1 and KCNMB4 Gene Polymorphisms and Autism in Polish Population.Journal of autism and developmental disorders · 2022Article
- Modern Biomarkers for Autism Spectrum Disorder: Future Directions.Molecular diagnosis & therapy · 2022Article
- Inhibitory effects on L- and N-type calcium channels by a novel CaNaunyn-Schmiedeberg's archives of pharmacology · 2022Article
- A novel chemo-phenotypic method identifies mixtures of salpn, vitamin D3, and pesticides involved in the development of colorectal and pancreatic cancer.Ecotoxicology and environmental safety · 2022Article
22 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Autism spectrum disorder (ASD) depends on a clinical interview with no biomarkers to aid diagnosis. The current investigation interrogated single-nucleotide polymorphisms (SNPs) of individuals with ASD from the Autism Genetic Resource Exchange (AGRE) database. SNPs were mapped to Kyoto Encyclopedia of Genes and Genomes (KEGG)-derived pathways to identify affected cellular processes and develop a diagnostic test. This test was then applied to two independent samples from the Simons Foundation Autism Research Initiative (SFARI) and Wellcome Trust 1958 normal birth cohort (WTBC) for validation. Using AGRE SNP data from a Central European (CEU) cohort, we created a genetic diagnostic classifier consisting of 237 SNPs in 146 genes that correctly predicted ASD diagnosis in 85.6% of CEU cases. This classifier also predicted 84.3% of cases in an ethnically related Tuscan cohort; however, prediction was less accurate (56.4%) in a genetically dissimilar Han Chinese cohort (HAN). Eight SNPs in three genes (KCNMB4, GNAO1, GRM5) had the largest effect in the classifier with some acting as vulnerability SNPs, whereas others were protective. Prediction accuracy diminished as the number of SNPs analyzed in the model was decreased. Our diagnostic classifier correctly predicted ASD diagnosis with an accuracy of 71.7% in CEU individuals from the SFARI (ASD) and WTBC (controls) validation data sets. In conclusion, we have developed an accurate diagnostic test for a genetically homogeneous group to aid in early detection of ASD. While SNPs differ across ethnic groups, our pathway approach identified cellular processes common to ASD across ethnicities. Our results have wide implications for detection, intervention and prevention of ASD.
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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.