- 作者: Chia-Huei Lee; Chih-Min Liu; Chun-Chiang Wen; Shun-Min Chang; Hai-Gwo Hwu
- 作者服務機構: National Institute of Cancer Research, National Health Research Institutes, Zhunan Town, Taiwan, R.O.C.
- 中文摘要: --
- 英文摘要:
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 CNSrelated
genes revealed by this study warrant further investigation. - 中文關鍵字: --
- 英文關鍵字: --