Meta-analysis Report
Basic Info
| Reference |
McCarthy, S. E.,2009 PMID: 19855392
|
| Citation |
McCarthy, S. E., V. Makarov, et al. (2009). Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41(11): 1223-1227.
|
| Disease Type |
Bipolar Disorder & Schizophrenia |
| Study Type |
CNV study |
Detail Info
| Samples |
We integrated data from this study with four publicly available datasets to generate a combined sample of 8,590 individuals with schizophrenia, 2,172 with developmental delay or autism, 4,822 with bipolar disorder and 30,492 controls |
| Statistic Method |
The association of the microduplication and microdeletion was examined independently in each disorder using the CMH exact test with source as a stratifying variable. The Breslow-Day-Tarone test was used to assess the homogeneity of the partial OR between the studies of each disorder used in the meta-analysis.A common P value and OR were reported from the CMH exact test and from the logistic regression, respectively, only if there was homogeneity in the ORs between the studies in the meta-analysis. |
| Basic Result |
In this combined sample, the microduplication of 16p11.2 was strongly associated with schizophrenia (OR = 8.4 (2.8, 25.4), P = 4.8 E-07) and autism (OR = 20.7 (6.9, 61.7),P = 1.9 E-07). The association with bipolar disorder was also significant (OR = 4.3 (1.3, 14.5), P = 0.017). The reciprocal microdeletion of 16p11.2 was strongly associated with developmental delay or autism (OR = 38.7 (13.4, 111.8), P = 2.3 E?13), as reported previously1-3.However, the deletion was not associated with schizophrenia or bipolar disorder. These results suggest that the microduplication is associated with multiple psychiatric phenotypes,whereas the reciprocal microdeletion is more specifically associated with developmental delay and autism. |
CNVs reported by this study for BD (count: 4)
| Name |
Position |
Type |
Author Comments |
| CNV_McCarthy[2009]_2 |
chr16:29559989-29926000 |
duplication |
The microduplication of 16p11.2 was associated with bipolar disorder.
The microduplication of 16p11.2 was associated with bipolar disorder.
|
| CNV_McCarthy[2009]_1 |
chr16:29453358-30252310 |
duplication |
The microduplication of 16p11.2 was associated with bipolar disorder.
The microduplication of 16p11.2 was associated with bipolar disorder.
|
| CNV_McCarthy[2009]_4 |
chr16:29559989-30085300 |
duplication |
The microduplication of 16p11.2 was associated with bipolar disorder.
The microduplication of 16p11.2 was associated with bipolar disorder.
|
| CNV_McCarthy[2009]_3 |
chr16:29559989-30085300 |
duplication |
The microduplication of 16p11.2 was associated with bipolar disorder.
The microduplication of 16p11.2 was associated with bipolar disorder.
|
