Elevated polygenic burden for autism is associated with differential DNA methylation at birth.

Eilis HannonDiana SchendelChristine Ladd-AcostaJakob Grovenull nullChristine Søholm HansenShan V AndrewsDavid Michael HougaardMichaeline BresnahanOle MorsMads Vilhelm HollegaardMarie Bækvad-HansenMady HornigPreben Bo MortensenAnders D BørglumThomas WergeMarianne Giørtz PedersenMerete NordentoftJoseph BuxbaumM Daniele FallinJonas Bybjerg-GrauholmAbraham ReichenbergJonathan S Mill

Published in: Genome medicine (2018)

This study is the largest analysis of DNA methylation in ASD undertaken and the first to integrate genetic and epigenetic variation at birth. We demonstrate the utility of using a polygenic risk score to identify molecular variation associated with disease, and of using mQTL to refine the functional and regulatory variation associated with ASD risk variants.

Keyphrases

dna methylation
autism spectrum disorder
genome wide
copy number
gene expression
intellectual disability
attention deficit hyperactivity disorder
transcription factor
pregnant women
risk factors
single molecule