Study Report

Basic Info
Reference |
Malhotra, D.,2011 PMID: 22196331
|
Citation |
Malhotra, D., S. McCarthy, et al. (2011). "High frequencies of de novo CNVs in bipolar disorder and schizophrenia." Neuron 72(6): 951-963.
|
Disease Type |
Bipolar Disorder & Schizophrenia |
Study Design |
case-control |
Study Type |
Genome-wide CNV study |
Sample Size |
Diagnoses of offspring included bipolar disorder(n = 185), schizophrenia (n = 177), and healthy controls (n = 426). |
SNP/Region/Marker Size |
the whole genome |
Predominant Ethnicity |
|
Population |
American |

Detail Info
Sample Status |
Our study sample included 788 subject-mother-father trios with confirmed parentage. DNA from all subjects was derived from whole blood.Diagnoses of subjects included bipolar disorder (n = 185, including 107 with an age at onset % 18), schizophrenia (n = 177), and healthy controls (n = 426). While the primary disease focus of this study was BD, the inclusion of an additional schizophrenia cohort served first to replicate the one previous study of de novo CNVs in SCZ (Xu et al., 2008) and second to enable a valid comparison of patterns of de novo CNVs in BD with another disorder. In addition, a small set of autism spectrum disorder(ASD) trios (n = 45), all of which had been included in a previous study (Sebat et al., 2007) and three of which carried known de novo CNVs, were included as a ''positive control'' to confirm the sensitivity of our methods for detecting de novo events. |
Technique |
genotyping |
Statistical Method |
Fisher's exact test |
Result Summary |
Frequencies of de novo CNVs were significantly higher in bipolar disorder as compared with controls (OR = 4.8 [1.4,16.0], p = 0.009). De novo CNVs were particularly enriched among cases with an age at onset younger than 18 (OR = 6.3 [1.7,22.6], p = 0.006). We also confirmed a significant enrichment of de novo CNVs in schizophrenia (OR = 5.0 [1.5,16.8], p = 0.007). Our results suggest that rare spontaneous mutations are an important contributor to risk for bipolar disorder and other major neuropsychiatric diseases. |

CNVs reported by this study for BD (count: 10)
Name |
Position |
Type |
Author Comments |
CNV_Malhotra[2011]_6 |
chr9:9855970-9927360 |
duplication |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_5 |
chr9:5264155-7119082 |
duplication |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_10 |
chr16:80019981-80399720 |
deletion |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_8 |
chr16:29512728-30124017 |
duplication |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_9 |
chr16:73021657-73057216 |
duplication |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_7 |
chr9:28639667-28696714 |
deletion |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_2 |
chr3:197417247-198249463 |
deletion |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_1 |
chr3:126663504-126720022 |
deletion |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_4 |
chr5:138051454-138254688 |
duplication |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|
CNV_Malhotra[2011]_3 |
chr5:17508759-17561308 |
deletion |
This is a de novo CNV discovered and validated in our study.
This is a de novo CNV discovered and validated in our study.
|

Genes reported by this study for BD (count: 3)
Gene |
Statistical Values/Author Comments |
Result Category |
LINGO2 |
A de novo CNV related with this gene is discovered and validated in our study
A de novo CNV related with this gene is discovered and validated in our study
|
Trend
|
PTPRD |
A de novo CNV related with this gene is discovered and validated in our study
A de novo CNV related with this gene is discovered and validated in our study
|
Trend
|
SNX4 |
A de novo CNV related with this gene is discovered and validated in our study
A de novo CNV related with this gene is discovered and validated in our study
|
Trend
|