Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances.

Deleting or duplicating sleep risk genes is associated with autism risk Pooling the MSSNG and SSC datasets yielded highly significant enrichment of insomnia risk (OR = 1.7, 95% CI = 1.5–2.0, p = 6.1 –05 ) and circadian pathway deletions (OR = 4.0, 95% CI = 3.4–4.6, p = 1.3 –05 ), and circadian duplications (OR = 1.8, 95% CI = 1.5–2.1, p = 4.4 –05 ), in ASD compared to controls (see Fig. 3 and Table S6 ). 95% CI of these ORs obtained by bootstrapping confirmed these results (Table S6 ).

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When individuals with psychiatric CNVs were removed, these findings became marginally significant ( p = 0.05).

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