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Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits

Aicha Massrali, Helena Brunel, Eilis Hannon, Chloe Wong, iPSYCH-MINERvA Epigenetics Group, Simon Baron-Cohen, Varun Warrier
doi: https://doi.org/10.1101/493601
Aicha Massrali
1Autism Research Centre, University of Cambridge, UK
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  • For correspondence: am2366@medschl.cam.ac.uk helena.brunel@gmail.com vw260@medschl.cam.ac.uk
Helena Brunel
1Autism Research Centre, University of Cambridge, UK
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  • For correspondence: am2366@medschl.cam.ac.uk helena.brunel@gmail.com vw260@medschl.cam.ac.uk
Eilis Hannon
2University of Exeter Medical School, University of Exeter, RILD Building, Level 4, Barrack Rd, Exeter, UK
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Chloe Wong
3King’s College London, Institute of Psychiatry, Psychology and Neuroscience, De Crespigny Park, London, UK
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Simon Baron-Cohen
1Autism Research Centre, University of Cambridge, UK
4Cambridgeshire and Peterborough National Health Service Foundation Trust, Cambridge, UK
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Varun Warrier
1Autism Research Centre, University of Cambridge, UK
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  • For correspondence: am2366@medschl.cam.ac.uk helena.brunel@gmail.com vw260@medschl.cam.ac.uk
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Abstract

Previous studies have identified differences in DNA methylation in autistic individuals compared to neurotypical individuals. Yet, it is unclear if this extends to autistic traits – subclinical manifestation of autism features in the general population. Here, we investigate the association between DNA methylation at birth (cord blood), and scores on the Social and Communication Disorders Checklist (SCDC), a measure of autistic traits, in 701 8-year olds, by conducting a methylome-wide association study (MWAS) using DNA methylation data from cord-blood. Whilst did not identify significant loci demonstrating differential methylation, we observe a degree of overlap between the SCDC MWAS and post-mortem brain methylation signature in autism. Validating this, we observe an enrichment for genes that are dysregulated in the post-mortem autism brain. Finally, integrating genome-wide data from more than 40,000 individuals and mQTL maps from cord-blood, we demonstrate that mQTLs of CpGs associated with SCDC scores at different P-value thresholds are significantly shifted towards lower P-values in a GWAS for autism. We validate this using a GWAS of SCDC, and demonstrate a lack of enrichment in a GWAS of Alzheimer’s disease. Our results highlight the shared cross-tissue epigenetic architecture of autism and autistic traits, and demonstrate that mQTLs associated with methylation changes in childhood autistic traits are enriched for common genetic variants associated with autism and autistic traits.

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Posted December 13, 2018.
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Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits
Aicha Massrali, Helena Brunel, Eilis Hannon, Chloe Wong, iPSYCH-MINERvA Epigenetics Group, Simon Baron-Cohen, Varun Warrier
bioRxiv 493601; doi: https://doi.org/10.1101/493601
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Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits
Aicha Massrali, Helena Brunel, Eilis Hannon, Chloe Wong, iPSYCH-MINERvA Epigenetics Group, Simon Baron-Cohen, Varun Warrier
bioRxiv 493601; doi: https://doi.org/10.1101/493601

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