ArticleMolecular psychiatry2010
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
Article in Molecular psychiatry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 1 of them a synthesis that pooled it.
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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
80 citing papers in PubMed, 1 synthesis or guideline pooled it, 143 citations in OpenAlex.
- Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis.Molecular psychiatry · 2012Pooled it
- Could the Polymorphisms of DOCK4 (rs147636134), SYNGAP1 (rs199759879), and FOXP1 (rs767001715) be the Primary Risk Factors for Bipolar Disorder and Autism Spectrum Disorder?Developmental neurobiology · 2025Article
- Histone lactylation regulates DOCK4 to control heat nociception and supports Dynein-mediated Nav1.7 trafficking.Nature communications · 2025Article
- Coconut: covariate-assisted composite null hypothesis testing with applications to replicability analysis of high-throughput experimental data.BMC bioinformatics · 2025Article
- Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease.CNS neuroscience & therapeutics · 2025Review
- Antioxidant Behavioural Phenotype in theGenes · 2023Article
- Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder.Molecular genetics & genomic medicine · 2023Article
- Roles of Rac1-Dependent Intrinsic Forgetting in Memory-Related Brain Disorders: Demon or Angel.International journal of molecular sciences · 2023Review
- Immp2l Mutation Induces Mitochondrial Membrane Depolarization and Complex III Activity Suppression after Middle Cerebral Artery Occlusion in Mice.Current medical science · 2023Article
- Direct targeting of DOCK4 by miRNA-181d in oxygen-glucose deprivation/reoxygenation-mediated neuronal injury.Lipids in health and disease · 2023Article
- Article
- KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.American journal of human genetics · 2022Article
- The involvement of oxysterol-binding protein related protein (ORP) 6 in the counter-transport of phosphatidylinositol-4-phosphate (PI4P) and phosphatidylserine (PS) in neurons.Biochemistry and biophysics reports · 2022Article
- Mitochondrial Processing Peptidases-Structure, Function and the Role in Human Diseases.International journal of molecular sciences · 2022Review
- Article
- Rac-maninoff and Rho-vel: The symphony of Rho-GTPase signaling at excitatory synapses.Small GTPases · 2022Article
- Identification of methylation markers for diagnosis of autism spectrum disorder.Metabolic brain disease · 2022Article
- Article
- Autism-like social deficit generated by Dock4 deficiency is rescued by restoration of Rac1 activity and NMDA receptor function.Molecular psychiatry · 2021Article
- Retracted: Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning.JMIR medical informatics · 2021Article
20 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 7 institutions in 4 countries.
Funding
Abstract
Autism spectrum disorders are a group of highly heritable neurodevelopmental disorders with a complex genetic etiology. The International Molecular Genetic Study of Autism Consortium previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we performed a high-density association analysis in AUTS1 and AUTS5, testing more than 3000 single nucleotide polymorphisms (SNPs) in all known genes in each region, as well as SNPs in non-genic highly conserved sequences. SNP genotype data were also used to investigate copy number variation within these regions. The study sample consisted of 127 and 126 families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Further investigation of the strongest association results was conducted in an independent European family sample containing 390 affected individuals. Association and copy number variant analysis highlighted several genes that warrant further investigation, including IMMP2L and DOCK4 on chromosome 7. Evidence for the involvement of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family.
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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.