PMC:4067558 / 26741-27978 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4067558","sourcedb":"PMC","sourceid":"4067558","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4067558","text":"We found that ASD risk increased (as measured by the predicted OR) as the numbers of deleted brain-expressed genes increased (generalized linear model chi-square goodness of fit, p = 3.2 × 10−5 and p = 4.7 × 10−7, respectively; Figures 3C and 3D). These results were consistent across the various models tested (Tables S11A–S11E). There was a decrease in signal after removal of affected subjects with at least one de novo event, suggesting that most of the risk can be attributed to de novo CNVs. Notably, the signal further decreased 2-fold when the remaining pathogenic CNVs were removed, confirming that pathogenic inherited CNVs alone also carry risk. Moreover, we found that gene density contributed significantly to increased risk only when de novo CNVs and inherited pathogenic CNVs were considered, whereas a higher-than-average level of gene expression in deletions (but not duplications) was a contributor irrespective of CNV status (i.e., even after removal of both de novo and inherited pathogenic CNVs) (Tables S11A–S11E). Thus, it is likely that de novo and pathogenic CNVs contribute to risk by altering the expression of more than one gene, suggesting that genetic interactions between these genes can underlie ASD risk.","tracks":[]}