Work

Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder

Year: 2017

Type: article

Abstract: Integration of emerging epigenetic information with autism spectrum disorder (ASD) genetic results may elucidate functional insights not possible via either type of information in isolation. Here we use the genotype and DNA methylation (DNAm) data from cord blood and peripheral blood to identify SNPs associated with DNA methylation (meQTL lists). Additionally, we use publicly available fetal brain and lung meQTL lists to assess enrichment of ASD GWAS results for tissue-specific meQTLs. ASD-associated SNPs are enriched for fetal brain (OR = 3.55; P < 0.001) and peripheral blood meQTLs (OR = 1.58; P < 0.001). The CpG targets of ASD meQTLs across cord, blood, and brain tissues are enriched for immune-related pathways, consistent with other expression and DNAm results in ASD, and reveal pathways not implicated by genetic findings. This joint analysis of genotype and DNAm demonstrates the potential of both brain and blood-based DNAm for insights into ASD and psychiatric phenotypes more broadly.

Source: Nature Communications

DOI: 10.1038/s41467-017-00868-y

Authors: Shan V. Andrews, Shannon E. Ellis, Kelly M. Bakulski, Brooke Sheppard, Lisa A. Croen, Irva Hertz-Picciotto, Craig J. Newschaffer, Andrew P. Feinberg, Dan E. Arking, Christine Ladd-Acosta, M. Daniele Fallin

Institutions: Johns Hopkins University, Johns Hopkins Medicine, University of Michigan, Kaiser Permanente, Kaiser Permanente Northern California, University of California, Davis, Drexel University

Language: English

Topic: Autism Spectrum Disorder Research

Subfield: Cognitive Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $6,990

Funders: Autism Speaks, Wellcome Trust, Centers for Disease Control and Prevention, National Institute of Mental Health, National Institute of Environmental Health Sciences

Awards: Genome-wide Environment Interaction Study for Autism: The SEED study, Autism Genetics Phase II: Increasing Representation of Human Diversity, MD CADDRE: STUDY TO EXPLORE EARLY DEVELOPMENT, SEED PHASE II, NORTH CAROLINA CTR FOR AUTISM & DEVELOPMENT DISABILITIES RESEARCH & EPIDEMIOLOGY, NATIONAL CADDRE STUDY: CHILD DEVELOPMENT AND AUTISM, NATIONAL CADDRE STUDY: CHILD DEVELOPMENT AND AUTISM, CENTERS FOR AUTISM & DEVELOP DISABILITIES RESARCH & EPIDEMIOL:A CASE-COHORT STUDY, COLORADO CADDRE: A CASE-COHORT STUDY, G6838829540, Environment, The Perinatal Epigenome, and Risk for Autism and Related Disorders, Prenatal exposure to metals and risk for Autism Spectrum Disorder in MARBLES and EARLI, Early Autism Risk Longitudinal Investigation (EARLI) Network, COMPONENT A: MD CADDRE: STUDY TO EXPLORE EARLY DEVELOPMENT, SEED PHASE III

OpenAlex ID: W2949285056

FWCI: 5.961

Cites: 68

Cited by: 81

Related to: 10