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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Study Report

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Basic Info

Reference	Van Den Bossche, M. J.,2012 PMID: 22911887
Citation	Van Den Bossche, M. J., M. Johnstone, et al. (2012). "Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?" Am J Med Genet B Neuropsychiatr Genet 159B(7): 812-822.
Disease Type	Bipolar Disorder & Schizophrenia & Major Depressive Disorder
Study Design	case-control
Study Type	Candidate-gene CNV study
Sample Size	1,281 SZ patients, 676 patients with bipolar disorder, 169 MDD patients, 260 ID patients, and 1210 control individuals.
SNP/Region/Marker Size	6 genomic regions
Predominant Ethnicity	Caucasian
Population	Belgian,Swedish and Scottish

Detail Info

Sample Diagnosis	DSM
Sample Status	Patient and control individuals were recruited in Scotland,Northern Sweden, and Belgium.The Belgian sample consists of 170 patients with schizophrenia (SZ), 264 patients with bipolar disorder (BPD),and 357 control individuals. The Swedish individuals originate from a geographically isolated population of the County of Vasterbotten in Northern Sweden. The Swedish sample consists of 543 SZ patients, 305 BPD patients, and 502 control individuals. The Scottish samples comprise a cohort of 1,104 cases(568 with SZ, 107 with BPD, 169 with major depressive disorder (MDD) and 260 with intellectual disability (ID)) and 351 controls.
Technique	Genotyping
Statistical Method	the Multiplex Amplicon Quantification (MAQ) Technology
Result Summary	In all regions CNVs were found in the schizophrenia patient group.CNVsin 2p16.3 and 3q29 were only found in SZ patients and not in other disorders or controls. CNVs in other regions occurred in the schizophrenia group as well as in controls and at least in one other disorder group. Patients with ID or SZ had the highest number of CNVs in the analyzed regions (2.83% and 2.22%, respectively). Patients with BPD and MDD had an overall incidence of a CNV of 1.73% and 1.87%, respectively. The lowest number of CNVs was found in controls (1.12%). Both duplications and deletions are more frequent in patients than in controls, but deletions are much more frequent, with the exception of the BPD group: 1.62% of ID patients, 1.03% of SZ patients, and 0.63% of MDD patients carry a deletion in one of these regions, while this is the case in only 0.26% of all control individuals.

CNVs reported by this study for BD (count: 11)

Name	Position	Type	Author Comments
CNV_Van Den Bossche[2012]_6	chr15:22815085-23077344	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_5	chr15:22815085-23077344	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_4	chr15:22815085-23077344	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_3	chr15:22815085-23077344	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_10	chr16:29678151-30135848	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_9	chr15:32095870-32324479	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_8	chr15:32095870-32324479	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_7	chr15:22815085-23077344	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_11	chr16:29678151-30135848	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_2	chr15:22815085-23077344	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.
CNV_Van Den Bossche[2012]_1	chr15:22815085-23077344	duplication	This CNVs was found in individuals diagnosed with BPD. This CNVs was found in individuals diagnosed with BPD.