Table 1 Frequencies of 22q11.2 duplications in cases and controls

From: Evidence that duplications of 22q11.2 protect against schizophrenia

Study

Case 22q11.2dup frequency (N CNVs/N samples)

Control 22q11.2dup frequency (N CNVs/N samples)

P value (Fisher's exact test)

OR (95% CI)

Discovery

0% (0/6 882)

0.089% (10/11 255)

0.017 (2-Tail)

 

Replication

 MGS EA

0.090% (2/2 215)

0.16% (4/2 556)

  

 MGS AA

0% (0/977)

0.23% (2/881)

  

 ISC

0% (0/3 395)

0.031% (1/3 185)

  

 Irish/WTCCC2

0% (0/1 377)

0.10% (1/992)

  

 African American

0.061% (1/1 637)

0% (0/960)

  

 Swedish

0% (0/4 655)

0.066% (4/6 038)

  

Total replication

0.021% (3/14 256)

0.082% (12/14 612)

0.020 (1-Tail)

 

Total discovery+replication

0.014% (3/21 138)

0.085% (22/25 867)

0.00086 (2-Tail)

0.17 (0.050–0.56)

Other disorders

 ID/DD/CM

0.32% (50/15 767)

0.085% (23/27 133)

5.9 × 10–8 (2-Tail)

3.75 (2.29–6.15)

 ASD

0.28% (12/4 315)

0.085% (23/27 133)

0.002 (2-Tail)

3.29 (1.63–6.61)

  1. Abbreviations: AA, African American; ASD, autism spectrum disorder; CI, confidence interval; CM, congenital malformations; CNV, copy number variant; DD, developmental delay; EA, European American; ID, intellectual disability; ISC, International Schizophrenia Consortium; MGS, molecular genetics of schizophrenia; OR, odds ratio; WTCCC2, Wellcome Trust Case Control Consortium 2. The frequencies found in ID, DD, CM, ASD and their respective controls were taken from a recent review by Malhotra et al.1