ArticleMolecular autism2012
Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci.
Article in Molecular autism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
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- Overlap in synaptic neurological condition susceptibility pathways and the neural pannexin 1 interactome revealed by bioinformatics analyses.Channels (Austin, Tex.) · 2023Article
- Transcriptomic analysis reveals mitochondrial pathways associated with distinct adolescent behavioral phenotypes and stress response.Translational psychiatry · 2023Article
- The intersection of genome, epigenome and social experience in autism spectrum disorder: Exploring modifiable pathways for intervention.Neurobiology of learning and memory · 2023Article
- Review
- Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder.Pharmacogenomics and personalized medicine · 2022Article
- Pannexin 1 mutation found in melanoma tumor reduces phosphorylation, glycosylation, and trafficking of the channel-forming protein.Molecular biology of the cell · 2021Article
- Predicting the Risk Genes of Autism Spectrum Disorders.Frontiers in genetics · 2021Article
- Calculating the statistical significance of rare variants causal for Mendelian and complex disorders.BMC medical genomics · 2018Article
- Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism.Science signaling · 2018Article
- Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder.Nature communications · 2017Article
- Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma.PloS one · 2017Article
- The role of Pannexin gene variants in schizophrenia: systematic analysis of phenotypes.European archives of psychiatry and clinical neuroscience · 2016Article
- Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes.Frontiers in neuroscience · 2016Article
- Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci.BMC genomics · 2015Article
- Structural architecture of SNP effects on complex traits.American journal of human genetics · 2014Article
- Top associated SNPs in prostate cancer are significantly enriched in cis-expression quantitative trait loci and at transcription factor binding sites.Oncotarget · 2014Article
- Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundAutism spectrum disorder is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for an association of common variants with autism susceptibility risk have met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum.
methodsIn this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P <0.001) for expression quantitative trait loci present in the parietal lobe (GSE35977), cerebellum (GSE35974) and lymphoblastoid cell lines (GSE7761). We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency to generate an empirical P-value indicating statistically significant enrichment of expression quantitative trait loci in top results from the autism genome-wide association study.
resultsOur findings show a global enrichment of brain expression quantitative trait loci, but not lymphoblastoid cell line expression quantitative trait loci, among top single nucleotide polymorphisms from an autism genome-wide association study. Additionally, the data implicates individual genes SLC25A12, PANX1 and PANX2 as well as pathways previously implicated in autism.
conclusionsThese findings provide supportive rationale for the use of annotation-based approaches to genome-wide association studies.
Identifiers
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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.