https://scholars.lib.ntu.edu.tw/handle/123456789/356077
Title: | Genetic copy number variants in sib pairs both affected with schizophrenia | Authors: | Lee, Chia-Huei HAI-GWO HWU CHIH-MIN LIU Liu, Chih-Min Wen, Chun-Chiang Chang, Shun-Min Hwu, Hai-Gwo |
Issue Date: | 2010 | Journal Volume: | 17 | Journal Issue: | 1 | Source: | Journal of Biomedical Science | 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 < 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. 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. ? 2010 Lee et al; licensee BioMed Central Ltd. |
URI: | http://www.scopus.com/inward/record.url?eid=2-s2.0-77649320257&partnerID=MN8TOARS http://scholars.lib.ntu.edu.tw/handle/123456789/356077 |
DOI: | 10.1186/1423-0127-17-2 | SDG/Keyword: | bu 678720; CCAAT enhancer binding protein delta; DNA; gene product; LIM homeobox protein 5; oligonucleotide; protein kinase LKB1; PVR protein; retinoid X receptor alpha; transcription factor; unclassified drug; virus protein; article; case control study; central nervous system; chromosome 12q; chromosome 19p; chromosome 8q; chromosome 9q; clinical article; comparative genomic hybridization; controlled study; disease severity; DNA microarray; female; gene deletion; gene disruption; gene expression; gene number; genetic analysis; genetic association; genetic disorder; genetic screening; genetic variability; genome wide screening; human; incidence; male; negative syndrome; nucleotide sequence; priority journal; schizophrenia; sibling; adult; copy number variation; genetics; human genome; methodology; pathology; pedigree; schizophrenia; sibling; single nucleotide polymorphism; Poliovirus; Adult; Comparative Genomic Hybridization; DNA Copy Number Variations; Genome, Human; Genome-Wide Association Study; Humans; Oligonucleotide Array Sequence Analysis; Pedigree; Polymorphism, Single Nucleotide; Schizophrenia; Siblings |
Appears in Collections: | 醫學系 |
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