BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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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