Regulatory RNA genes are targeted by Copy Number Variation in Autism Spectrum Disorder

Marques, Ana Rita

http://hdl.handle.net/10400.18/7073

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Authors

Marques, Ana Rita

Abstract(s)

Autism Spectrum Disorder (ASD) is a clinically heterogeneous neurodevelopmental disorder. Genetic factors are estimated to account for 50 to 80% of the familial ASD risk, but most of the genetic determinants are still not known and a role for epigenetic factors is likely. In this study we explored the potential role of noncoding RNAs in ASD by comparing the frequency of Copy Number Variants (CNVs) targeting microRNA (miRNA) or long noncoding (lncRNA) genes in ASD patients with control subjects. We found 34 miRNA genes associated with ASD that are predicted to regulate genes enriched by 6 significant pathways, 2 of which, the PI3K-Akt and MAPK signaling pathways, have been implicated in ASD. We also found 700 lncRNA genes associated with ASD. These results support our hypothesis that genetic variants targeting noncoding regulatory RNAs are involved in ASD pathophysiology. This systems biology integrative strategy will provide a better understanding of the biological processes underlying ASD, and contribute to biomarker and drug target discovery.