Association testing of copy number variants in schizophrenia and autism spectrum disorders

Table 2 Data on statistical significance, numbers of cases (in boldface parentheses), and case descriptions, for CNVs that have been reported in both autism and schizophrenia

CNV	Number autism # cases (refs)¹	Number controls # cases (refs)¹	p, autism risk, pooled data¹	p, autism risk, prev. studies (# cases) (refs)	p, schizo. risk, prev. studies (# cases) (refs)²	Autism, ASD, ID, delays, in case reports, series (refs)³	Model supported
del 1q21.1	1[23]	0	0.43	0.029 (1) [4, 29]	8.5 × 10^-6 (20)[30]	Yes [29, 31]	2b
dup 1q21.1	7 [23,27,28]	0	0.0029	9 × 10^-5 (3)[4, 29]	0.02 (11)[30]	Yes [29, 31]	2a or 2b
del 3q29	1[28]	0	0.43		0.0004 (7)[30]	Yes [32–34]	2b
del 15q11.2	2[27]	0	0.19		4.46 × 10^-8 (49)[3]	Yes [35–38]	2b
dup 15q11-q13 (BP2-BP3)	20 [23,24 26–28]	0	<0.0001	4 × 10^-4, (6)[28]; 1 × 10^-5, (13)[26]	0.10 (2)[7]	Yes [7, 39, 40]	1a
del 15q13.3	3[27, 28]	0	0.082		6.9 × 10^-7 (21)[30]	Yes [41–43]	2b
del 16p11.2	15[22, 25–28]	4 (26)	0.0015	5 × 10^-29 (14)[28]; 0.044 (4)[44]	0.88 (4)[30]	Yes [45–48]	1a
dup 16p11.2	10[25–28]	4 (26)	0.0246	2 × 10^-5 (5)[28]	2.6 × 10^-8 (31)[30]	Yes [45, 47]	2a or 2b
dup 16p13.1	0	0	ns	0.023 (3)[49]	0.00001 (12)[50]	Yes [49, 51, 52]	2a or 2b
del 17p12	2[28]	0	0.19	0.58, 0.14 (5) [53]⁴	0.0147 (4) [53]	Yes [53–55]	2b
del 22q11.21	2[27, 28]	0	0.19	0.11 (3)[28]	7.3 × 10^-13 (35)[30]	Yes [19, 56–62]	2b
dup 22q11.21	9[24–27]	0	0.00055	0.0218 (5)[26]	Not tested in [4] or [30]; too few cases of schizophrenia	Yes [63–70]	1a

See Additional file 1 for details.
¹ Case control data from Sebat et al. [22], Szatmari et al. [23], Christian et al. [24], Marshall et al. [25], Glessner et al. [26], Pinto et al. [27], and Sanders et al. [28]. Details are provided in Additional file 1.
Fisher's exact test was used.
² Most recent analysis, meta-analysis, or pooled-data analysis.
³ Details of these studies are provided in Additional file 1. See also Cooper et al. [71], Kaminsky et al. [21], and Sahoo et al. [72]. "Yes" refers to the presence of autism, ASD, or 'autistic features' among one or more individuals in these reports.
⁴ Tests involve autism cases only, discovery and follow-up samples. See Additional file 1 for details.

ISSN: 1866-1955