國家衛生研究院 NHRI:Item 3990099045/4327
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    題名: Genetic copy number variants in sib pairs both affected with schizophrenia
    作者: Lee, CH;Liu, CM;Wen, CC;Chang, SM;Hwu, HG
    貢獻者: National Institute of Cancer Research
    摘要: 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 x 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.
    日期: 2010-01-11
    關聯: Journal of Biomedical Science. 2010 Jan 11;17.
    Link to: http://dx.doi.org/10.1186/1423-0127-17-2
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1021-7770&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000275910100001
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=77649320257
    顯示於類別:[李家惠] 會議論文/會議摘要

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