Logo image
Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder
Journal article   Open access   Peer reviewed

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

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, …
Nature communications, v 8(1), pp 1011-10
24 Oct 2017
PMID: 29066808
url
https://doi.org/10.1038/s41467-017-00868-yView
Published, Version of Record (VoR)CC BY V4.0 Open

Abstract

Multidisciplinary Sciences Science & Technology Science & Technology - Other Topics
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 immunerelated 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.

Metrics

11 Record Views
63 citations in Scopus

Details

UN Sustainable Development Goals (SDGs)

This publication has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

InCites Highlights

Data related to this publication, from InCites Benchmarking & Analytics tool:

Collaboration types
Domestic collaboration
Web of Science research areas
Genetics & Heredity
Logo image