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. Author manuscript; available in PMC: 2010 Sep 1.
Published in final edited form as: Nat Genet. 2010 Feb 14;42(3):203–209. doi: 10.1038/ng.534

Table 1. Frequency of 16p12.1 microdeletion in cases and controls.

Cases Controls Significance
ID/DD cohort del 16p12.1 total del 16p12.1 total p-value OR
Discovery set1 20 11,873 2 8,540 0.0009 7.2
Replication set2 22 9,254 6 6,299 0.028 2.5
Combined3 42 21,127 8 15,199 0.000086 3.78
Schizophrenia cohort 3 3,061 8 15,199 0.27 1.86
1

The 16p12.1 microdeletion was originally identified based on a meta-analysis that identified 5 cases from 6,860 individuals with autism, schizophrenia and developmental delay compared to 0 observations in a control group of 5,674 (p=0.049). None of these cases were used in the discovery set although the original control group was expanded in the discovery set.

2

For the replication set all controls and cases were independent.

3

Combined set composed of discovery set + replication set.