Blood-Brain DNA Methylation Concordance in Autism Spectrum Disorders
Objectives: The purpose of this work is to identify the extent to which a more easily-accessible tissue, such as blood, can be used as an indicator of epigenetic signatures for ASD that have been discovered in the brain.
Methods: Ladd-Acosta et al. found four regions of the genome to be differentially methylated between ASD cases and controls in a cohort of 41 post-mortem brain tissue samples. We will attempt to replicate these regions using methylation measurements in whole-blood derived DNA from 609 individuals, including 292 ASD cases and 317 controls, enrolled in the Study to Explore Early Development (SEED), a multisite population-based case-control study of children aged 2-5 years with ASD and a control group drawn from the general population.
Results: We will present results detailing the extent to which differentially methylated regions discovered in the brain samples are replicated in the SEED cohort.
Conclusions: The utility of replication in this context would be to provide additional evidence for the methylation differences identified in these regions, and to inform the development of non-invasive biomarkers for both ASD and ASD-related exposures.