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Journal of Biomedical Science

, 17:2

First Online: 11 January 2010Received: 31 July 2009Accepted: 11 January 2010DOI: 10.1186-1423-0127-17-2

Cite this article as: Lee, CH., Liu, CM., Wen, CC. et al. J Biomed Sci 2010 17: 2. doi:10.1186-1423-0127-17-2


BackgroundSchizophrenia is a complex disorder with involvement of multiple genes.

MethodsIn this study, genome-wide screening for DNA copy-number variations CNVs was conducted for ten pairs, a total of 20 cases, of affected siblings using oligonucleotide array-based CGH.

ResultsWe found negative symptoms were significantly more severe p < 0.05 in the subgroup that harbored more genetic imbalance n ≧ 13, n = number of CNV-disrupted genes as compared with the subgroup with fewer CNVs n ≦ 6, indicating that the degree of genetic imbalance may influence the severity of the negative symptoms of schizophrenia. Four central nervous system CNS related genes including CCAAT-enhancer binding protein, delta CEBPD, 8q11.21, retinoid × receptor, alpha RXRA, 9q34.2, LIM homeobox protein 5 LHX5, 12q24.13 and serine-threonine kinase 11 STK11, 19p13.3 are recurrently incidence ≧ 16.7% disrupted by CNVs. Two genes, PVR poliovirus receptor and BU678720, are concordantly deleted in one and two, respectively, pairs of co-affected siblings. However, we did not find a significant association of this BU678720 deletion and schizophrenia in a large case-control sample.

ConclusionsWe conclude that the high genetic loading of CNVs may be the underlying cause of negative symptoms of schizophrenia, and the CNS-related genes revealed by this study warrant further investigation.

List of abbreviationsarray CGHArray-based comparative genomic hybridization

CNVscopy number variations

CNPscopy-number polymorphisms.

Electronic supplementary materialThe online version of this article doi:10.1186-1423-0127-17-2 contains supplementary material, which is available to authorized users.

Chia-Huei Lee, Chih-Min Liu contributed equally to this work.

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Autor: Chia-Huei Lee - Chih-Min Liu - Chun-Chiang Wen - Shun-Min Chang - Hai-Gwo Hwu


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