Table 2.

Meta-analysis of 16p11.2 rearrangements in schizophrenia, autism and developmental delay, and bipolar disorder

Diagnosis	Subjects	Deletions				Duplications
	N	N	%	OR[95% C.I.]	P-Value	N	%	OR[95% C.I.]	P-Value
Schizophrenia	8590	3	0.03	NC*		26	0.30	8.4 [2.8, 25.4]	4.8×10-7
Controls	28406	9	0.03			8	0.03
Autism or Developmental Delay	2172	17	0.78	38.7 [13.4,111.8]	2.3×10-13	10	0.46	20.7 [6.9,61.7]	1.9×10-7
Controls	24891	5	0.02			6	0.02
Bipolar Disorder	4822	4	0.08	NC*		6	0.12	4.3 [1.3; 14.5]	0.017
Controls	25225	6	0.02			7	0.03

^*Not calculated (NC) because significant heterogeneity among studies was detected by the Breslow-Day Tarone test. The partial odds ratios [95%CI] for the deletion in schizophrenia were 0.69 [0.1, 4.9], 0.3 [0.05, 2.2], 14.6 [1.9, 111.2], and 0.3 [0.03, 3.7] and partial odds ratios for the deletion in bipolar disorder were 0.3[0.03,3.3], 0.55[0.05,6.7], 25[5.4,117] in this study, the GAIN study and the Weiss et al. studies, respectively.

Data from four studies reporting microduplications and microdeletions of 16p11.2 in schizophrenia, autism and/or bipolar disorder were combined with data from the Primary Sample to assess the relative strength of the association of each variant with each disorder. Associations were calculated using the Cochran-Mantel-Haenszel exact test, using source as a stratifying variable. Combined odds ratio estimates and confidence intervals were calculated from logistic regression with disease group and source (study) as factors.