Study Report

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Basic Info

Reference	McQuillin, A.,2011 PMID: 21206513
Citation	McQuillin, A., N. Bass, et al. (2011). "Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample." Eur J Hum Genet 19(5): 588-592.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Genome-wide CNV study
Sample Size	546 bipolar cases and 517 controls
SNP/Region/Marker Size	the whole genome
Predominant Ethnicity	Caucasian
Population	Irish, Welsh, Scottish and English

Detail Info

Sample Diagnosis	RDC
Sample Status	BPAD cases and controls included in the analyses comprised DNA from individuals from the University College London (UCL) bipolar disorder sample collection (see Sklar et al10 and Ferreira et al7 for a description of the case and control samples). Additional UCL Bipolar II samples collected using the same ascertainment criteria as described above were included in the analysis presented in this study.The UCL Bipolar sample consisted of 97% bipolar 1 cases with psychotic symptoms according to Research Diagnostic Criteria (RDC) categories.The comparison subjects were 510 screened normal volunteers with no personal or first degree family history of any mental disorder. The cases and comparison subjects were selected if both their parents and all four grandparents were of Irish, Welsh, Scottish or English ancestry as defined by an ancestry checklist.Subjects were also included if one of the four grandparents was of European ancestry before the 2004 EU enlargement.
Technique	genotyping(Affymetrix GeneChip Human Mapping 500K Array Set)
Statistical Method	CNV association analyses were performed with PLINK58 (version 1.07, http://pngu.mgh.harvard.edu/~purcell/plink/). Empirical significance values (two tailed) were derived with the use of 10 000 permutations.
Result Summary	The overall rate of copy number variants in the University College London (UCL) bipolar disorder sample was found to be slightly lower than the rate in controls. This finding confirms the results from other studies that have also shown no increased rate of copy number variants in bipolar disorder. However, some rare duplications and deletions were observed only in bipolar disorder cases and not in controls, these included some that had previously been detected only in rare cases of bipolar disorder. We conclude that copy-number variant analysis shows no obvious sharing of the same genetic susceptibility between schizophrenia and bipolar disorder. Copy number variants do not seem to have an important role in susceptibility to bipolar disorder, they may, however, still represent a rare cause of the disease, although the evidence for this is far from clear.

CNVs reported by this study for BD (count: 26)

Name	Position	Author Comments
CNV_McQuillin[2011]_2	chr7:75975221-76052734	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_1	chr19:58644961-58689358	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_24	chr16:68705029-69071678	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_23	chr16:16333234-16351940	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_26	chr21:36429132-36440730	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_25	chr18:27210737-27312663	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_20	chr14:24044551-24047311	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_19	chr13:90848887-92317488	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_22	chr16:15950934-16296168	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_21	chr16:15435825-15889948	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_7	chr3:8896559-8980146	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_8	chr5:180098728-180099664	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_9	chr6:56430743-56816422	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_10	chr6:57290380-57621335	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_3	chr1:144439082-144791590	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_4	chr19:49581647-49644505	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_5	chr1:28399376-28842172	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_6	chr2:196772221-197165580	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_15	chr7:132588362-133401053	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_16	chr9:111037-169075	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_17	chr10:50334496-50490772	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_18	chr10:51497689-52053743	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_11	chr6:101953625-102624651	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_12	chr6:157140777-157572094	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_13	chr7:34935017-35044178	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.
CNV_McQuillin[2011]_14	chr7:88226688-89777622	This CNV occurred in two or more cases but not in controls. This CNV occurred in two or more cases but not in controls.

Genes reported by this study for BD (count: 14)

Gene	Statistical Values/Author Comments	Result Category
ARID1B	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
GRIK2	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
CMA1	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
RAD18	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
UPK3B	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
DST	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
GPC5	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
PRIM2	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
CBR3	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
OR2Y1	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
CBWD1	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
DPY19L1	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
EXOC4	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend
HECW2	Gene related CNV occurred in two or more cases but not in controls. Gene related CNV occurred in two or more cases but not in controls.	Trend