Table II. De novo copy number variants (DCCNVs): attributable risk and risks of illness for autism spectrum disorder (ASD), schizophrenia (SCZ) and bipolar disorder (BD).47 Data from: Xu 2008,48 Malhotra 2011,49 and Sebat 2007.50 Computation of illness risk of any disorder is 1-(1-P1)(1-P2)(1-P3), where Pi is the risk for each disorder. This calculation indirectly accounts for probability of co-occurrence of more than one disorder in any individual as a product of the probability of each diagnosis. Frequency of DNCNV in normal controls is approximately 1%. Overall burdens of rare and de novo single nucleotide variants (SNVs), and rare small insertions and deletions (indels) are also associated with some neuropsychiatric disorders.28,48 For rare SNVs and indels, the association is not present in the genome as a whole, but in “large set of genes with a higher likelihood of having a role in schizophrenia, on the basis of existing genetic evidence.”28 This offers some hope that parsing of the evidence for genome-wide aggregations of data will lead to neurobio-logically useful diagnostic categories or scales. OR, odds ratio; aBased on Bayesian probability.
From ref 47: Gershon ES, Alliey-Rodriguez N. New ethical issues for genetic coun seling in common mental disorders. Am J Psychiatry. 2013;170:968-976. Copyright © American Psychiatric Association 2013.
| Disease | OR | Rate of DNCNV if Ill | Illness risk if DNCNVa |
| Schizophrenia | 6.27 | 6.10% | 5.67% |
| Bipolar disorder | 4.77 | 4.32% | 4.45% |
| ASD | 7.50 | 7.18% | 4.07% |
| Risk of any one of these disorders | 13.53% |