The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Common DNA methylation alterations in multiple brain regions in autism
Open accessAbstract
Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders defined clinically by a triad of features including impairment in social interaction, impairment in communication in social situations and restricted and repetitive patterns of behavior and interests, with considerable phenotypic heterogeneity among individuals. Although heritability estimates for ASD are high, conventional genetic-based efforts to identify genes involved in ASD have yielded only few reproducible candidate genes that account for only a small proportion of ASDs. There is mounting evidence to suggest environmental and epigenetic factors play a stronger role in the etiology of ASD than previously thought. To begin to understand the contribution of epigenetics to ASD, we have examined DNA methylation (DNAm) in a pilot study of postmortem brain tissue from 19 autism cases and 21 unrelated controls, among three brain regions including dorsolateral prefrontal cortex, temporal cortex and cerebellum. We measured over 485 000 CpG loci across a diverse set of functionally relevant genomic regions using the Infinium HumanMethylation450 BeadChip and identified four genome-wide significant differentially methylated regions (DMRs) using a bump hunting approach and a permutation-based multiple testing correction method. We replicated 3/4 DMRs identified in our genome-wide screen in a different set of samples and across different brain regions. The DMRs identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.
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Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
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Combinatorial microRNA target predictions
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Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874
High density DNA methylation array with single CpG site resolution
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome
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Epigenomic Profiling Reveals DNA-Methylation Changes Associated with Major Psychosis
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Cited by
Identification, Evaluation, and Management of Children With Autism Spectrum Disorder
Hyman, S. L., Levy, S. E., Myers, S. M., COUNCIL ON CHILDREN WITH DISABILITIES, S. O. D. A. B. P., Kuo, D. Z., Apkon, S., Davidson, L. F., Ellerbeck, K. A., Foster, J. E. A., Noritz, G. H., et al. (2020) · Pediatrics · doi:10.1542/peds.2019-3447 · Cited by 1,798
Autism spectrum disorder: Definition, epidemiology, causes, and clinical evaluation
Hodges, H., Fealko, C., & Soares, N. (2020) · Translational Pediatrics · doi:10.21037/tp.2019.09.09 · Cited by 1,127
The Changing Epidemiology of Autism Spectrum Disorders
Lyall, K., Croen, L., Daniels, J., Fallin, M. D., Ladd-Acosta, C., Lee, B. K., Park, B. Y., Snyder, N. W., Schendel, D., Volk, H., et al. (2017) · Annual Review of Public Health · doi:10.1146/annurev-publhealth-031816-044318 · Cited by 1,011
Self-citationGenetic Causes and Modifiers of Autism Spectrum Disorder
Rylaarsdam, L., & Guemez-Gamboa, A. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00385 · Cited by 560
Hannon, E., Lunnon, K., Schalkwyk, L., & Mill, J. (2015) · Epigenetics · doi:10.1080/15592294.2015.1100786 · Cited by 455
Metadata
- Authors
- Ladd-Acosta, C., Hansen, K. D., Briem, E., Fallin, M. D., Kaufmann, W. E., & Feinberg, A. P.
- Venue
- Molecular Psychiatry
- Published
- 2013-09-03
- Volume
- 19
- Issue
- 8
- Pages
- 862-871
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2052689749
- Cited by
- 327
- References
- 25
- FWCI
- 13.47
- Type
- journal article
- Language
- en
- Open access
- green
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Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
