作者
A Ingason, D Rujescu, S Cichon, E Sigurdsson, T Sigmundsson, OPH Pietiläinen, JE Buizer-Voskamp, E Strengman, Clyde Francks, P Muglia, A Gylfason, O Gustafsson, PI Olason, S Steinberg, T Hansen, KD Jakobsen, HB Rasmussen, I Giegling, HJ Möller, A Hartmann, Catriona Crombie, G Fraser, Nicholas Walker, J Lonnqvist, J Suvisaari, A Tuulio-Henriksson, E Bramon, LA Kiemeney, B Franke, R Murray, Evangelos Vassos, T Toulopoulou, TW Mühleisen, Sarah Tosato, Mirella Ruggeri, S Djurovic, OA Andreassen, Z Zhang, T Werge, RA Ophoff, M Rietschel, MM Nöthen, H Petursson, H Stefansson, Leena Peltonen, D Collier, K Stefansson, David Malcolm St Clair
发表日期
2011/1
期刊
Molecular psychiatry
卷号
16
期号
1
页码范围
17-25
出版商
Nature Publishing Group
简介
Deletions and reciprocal duplications of the chromosome 16p13. 1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35 079 controls from 8 European populations for duplications and deletions at the 16p13. 1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P= 0.007) and deletions in 0.12% of cases and 0.04% of controls (P> 0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P= 0.00010) association with schizophrenia. The age of onset in duplication and …
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