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Comment
. 2014 Jan;40(1):21-3.
doi: 10.1093/schbul/sbt133. Epub 2013 Sep 17.

Individualizing recurrence risks for severe mental illness: epidemiologic and molecular genetic approaches

Gregory Costain  1 , Anne S Bassett
Affiliations
Comment

Individualizing recurrence risks for severe mental illness: epidemiologic and molecular genetic approaches

Gregory Costain et al. Schizophr Bull. 2014 Jan.
No abstract available

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Figures

Fig. 1.
Fig. 1.
Discovery of a 22q11.2 deletion facilitates recurrence risk stratification for severe mental illness (SMI) in offspring. The 22q11.2 deletion syndrome (22q11.2DS) is associated with a 20%–25% lifetime risk for schizophrenia. Knowledge of an affected individual’s 22q11.2 deletion bifurcates the schizophrenia recurrence risk scenario for their offspring (Scenario 2). Transmission of the 22q11.2 deletion would imply a recurrence risk for schizophrenia of approximately 20%–25% in an offspring, whereas a failure to transmit the 22q11.2 deletion would theoretically decrease that risk to the standard population risk estimate (~1%); offspring indicated by an arrow in each case. With no knowledge of the 22q11.2 deletion status, an offspring would have an a priori “averaged” (though individually far less informative) recurrence risk for schizophrenia that is comparable with the standard empiric recurrence risk of 13% (Scenario 1). Recurrence risks for the other neuropsychiatric disorders associated with 22q11.2DS would be similarly affected. Of note, knowledge of an individual’s 22q11.2 deletion would also modify the schizophrenia recurrence risk scenario for siblings and thus for nieces/nephews. If the 22q11.2 deletion occurred as a new mutation in the affected individual or was otherwise not inherited by the sibling, the recurrence risk for schizophrenia would be significantly lower than the 20%–25% risk for schizophrenia if the 22q11.2 deletion was also inherited by the sibling. The potential impact of (1) sex differences in reproductive fitness, (2) assortative mating, (3) additional information bestowed by multiparity, (4) imprinting and parent-of-origin effects, (5) germline mosaicism, (6) schizophrenia modifier alleles, and (7) other potential confounders are not considered here. Empiric data are needed to confirm these recurrence risk predictions.
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References

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