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From the third issue of 2017, Microarrays has changed its name to High-Throughput.

Open AccessArticle

Identifying Potential Regions of Copy Number Variation for Bipolar Disorder

Department of Public Health & Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei 100, Taiwan
Department of Psychiatry, College of Medicine & Hospital, National Cheng Kung University, Tainan 704, Taiwan
Research Center for Genes, Environment and Human Health, National Taiwan University, Taipei 100, Taiwan
Author to whom correspondence should be addressed.
Microarrays 2014, 3(1), 52-71;
Received: 1 December 2013 / Revised: 10 February 2014 / Accepted: 12 February 2014 / Published: 28 February 2014
PDF [495 KB, uploaded 28 February 2014]


Bipolar disorder is a complex psychiatric disorder with high heritability, but its genetic determinants are still largely unknown. Copy number variation (CNV) is one of the sources to explain part of the heritability. However, it is a challenge to estimate discrete values of the copy numbers using continuous signals calling from a set of markers, and to simultaneously perform association testing between CNVs and phenotypic outcomes. The goal of the present study is to perform a series of data filtering and analysis procedures using a DNA pooling strategy to identify potential CNV regions that are related to bipolar disorder. A total of 200 normal controls and 200 clinically diagnosed bipolar patients were recruited in this study, and were randomly divided into eight control and eight case pools. Genome-wide genotyping was employed using Illumina Human Omni1-Quad array with approximately one million markers for CNV calling. We aimed at setting a series of criteria to filter out the signal noise of marker data and to reduce the chance of false-positive findings for CNV regions. We first defined CNV regions for each pool. Potential CNV regions were reported based on the different patterns of CNV status between cases and controls. Genes that were mapped into the potential CNV regions were examined with association testing, Gene Ontology enrichment analysis, and checked with existing literature for their associations with bipolar disorder. We reported several CNV regions that are related to bipolar disorder. Two CNV regions on chromosome 11 and 22 showed significant signal differences between cases and controls (p < 0.05). Another five CNV regions on chromosome 6, 9, and 19 were overlapped with results in previous CNV studies. Experimental validation of two CNV regions lent some support to our reported findings. Further experimental and replication studies could be designed for these selected regions. View Full-Text
Keywords: bipolar disorder; copy number variation; DNA pooling; filtering bipolar disorder; copy number variation; DNA pooling; filtering
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Chen, Y.-H.; Lu, R.-B.; Hung, H.; Kuo, P.-H. Identifying Potential Regions of Copy Number Variation for Bipolar Disorder. Microarrays 2014, 3, 52-71.

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