ArticlePloS one2011
Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- A meta-analysis of two high-risk prospective cohort studies reveals autism-specific transcriptional changes to chromatin, autoimmune, and environmental response genes in umbilical cord blood.Molecular autism · 2019Pooled it
- Meta-Analysis of Differential Connectivity in Gene Co-Expression Networks in Multiple Sclerosis.International journal of molecular sciences · 2016Pooled it
- Unveiling the Potential of Functional Components in Hull-Less Barley Grains: Health Benefits, Structural Composition, and Genetic Advancements.Foods (Basel, Switzerland) · 2026Review
- Vocal learning-associated convergent evolution in mammalian proteins and regulatory elements.Science (New York, N.Y.) · 2024Article
- A GBS-based genome-wide association study reveals the genetic basis of salinity tolerance at the seedling stage in bread wheat (Frontiers in genetics · 2022Article
- Elevated exposures to persistent endocrine disrupting compounds impact the sperm methylome in regions associated with autism spectrum disorder.Frontiers in genetics · 2022Article
- A Systematic Review of Genomic Regions and Candidate Genes Underlying Behavioral Traits in Farmed Mammals and Their Link with Human Disorders.Animals : an open access journal from MDPI · 2021Review
- Benefits of Cohort Studies in a Consortia-Dominated Landscape.Frontiers in genetics · 2021Article
- Phenotypic Subtyping and Re-Analysis of Existing Methylation Data from Autistic Probands in Simplex Families Reveal ASD Subtype-Associated Differentially Methylated Genes and Biological Functions.International journal of molecular sciences · 2020Article
- Genome-Wide Association Study of Salinity Tolerance During Germination in Barley (Frontiers in plant science · 2020Article
- Phenotypic Subtyping and Re-analyses of Existing Transcriptomic Data from Autistic Probands in Simplex Families Reveal Differentially Expressed and ASD Trait-Associated Genes.Frontiers in neurology · 2020Article
- Big data approaches to decomposing heterogeneity across the autism spectrum.Molecular psychiatry · 2019Review
- Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.Nature communications · 2019Article
- ASD Phenotype-Genotype Associations in Concordant and Discordant Monozygotic and Dizygotic Twins Stratified by Severity of Autistic Traits.International journal of molecular sciences · 2019Article
- Adhesion G Protein-Coupled Receptors as Drug Targets for Neurological Diseases.Trends in pharmacological sciences · 2019Review
- Genetics and epigenetics of autism spectrum disorder-current evidence in the field.Journal of applied genetics · 2019Review
- Affected Sib-Pair Analyses Identify Signaling Networks Associated With Social Behavioral Deficits in Autism.Frontiers in genetics · 2019Article
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- Heritable genotype contrast mining reveals novel gene associations specific to autism subgroups.Journal of biomedical informatics · 2018Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The heterogeneity of symptoms associated with autism spectrum disorders (ASDs) has presented a significant challenge to genetic analyses. Even when associations with genetic variants have been identified, it has been difficult to associate them with a specific trait or characteristic of autism. Here, we report that quantitative trait analyses of ASD symptoms combined with case-control association analyses using distinct ASD subphenotypes identified on the basis of symptomatic profiles result in the identification of highly significant associations with 18 novel single nucleotide polymorphisms (SNPs). The symptom categories included deficits in language usage, non-verbal communication, social development, and play skills, as well as insistence on sameness or ritualistic behaviors. Ten of the trait-associated SNPs, or quantitative trait loci (QTL), were associated with more than one subtype, providing partial replication of the identified QTL. Notably, none of the novel SNPs is located within an exonic region, suggesting that these hereditary components of ASDs are more likely related to gene regulatory processes (or gene expression) than to structural or functional changes in gene products. Seven of the QTL reside within intergenic chromosomal regions associated with rare copy number variants that have been previously reported in autistic samples. Pathway analyses of the genes associated with the QTL identified in this study implicate neurological functions and disorders associated with autism pathophysiology. This study underscores the advantage of incorporating both quantitative traits as well as subphenotypes into large-scale genome-wide analyses of complex disorders.
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