Schizophrenia is a complex disorder with involvement of multiple genes. Methods: In 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. Results: We found negative symptoms were significantly more severe (p | NSC Lee et al. Journal of Biomedical Science 2010 17 2 http content 17 1 2 The cost of publication in Journal of Biomedical Science is bourne by the National Science Council Taiwan. JOURNAL OF BIOMEDICAL SCIENCE RESEARCH Open Access Genetic copy number variants in sib pairs both affected with schizophrenia Chia-Huei Lee41 Chih-Min Liut2 Chun-Chiang Wen 2 Shun-Min Chang1 and Hai-Gwo Hwu 2 3 4 Abstract Background Schizophrenia is a complex disorder with involvement of multiple genes. Methods In 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. Results We found negative symptoms were significantly more severe p 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 retinoid X receptor alpha RXRA LIM homeobox protein 5 LHX5 and serine threonine kinase 11 STK11 are recurrently incidence 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. Conclusions We 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. Background Schizophrenia is a devastating mental disorder and its etiology has yet to be fully elucidated. Genetic epidemiological studies have shown that schizophrenia is predominantly genetically determined and has a high .
