作者
Dan Rujescu, Andres Ingason, Sven Cichon, Olli PH Pietiläinen, Michael R Barnes, Timothea Toulopoulou, Marco Picchioni, Evangelos Vassos, Ulrich Ettinger, Elvira Bramon, Robin Murray, Mirella Ruggeri, Sarah Tosato, Chiara Bonetto, Stacy Steinberg, Engilbert Sigurdsson, Thordur Sigmundsson, Hannes Petursson, Arnaldur Gylfason, Pall I Olason, Gudmundur Hardarsson, Gudrun A Jonsdottir, Omar Gustafsson, Ragnheidur Fossdal, Ina Giegling, Hans-Jürgen Möller, Annette M Hartmann, Per Hoffmann, Caroline Crombie, Gillian Fraser, Nicholas Walker, Jouko Lonnqvist, Jaana Suvisaari, Annamari Tuulio-Henriksson, Srdjan Djurovic, Ingrid Melle, Ole A Andreassen, Thomas Hansen, Thomas Werge, Lambertus A Kiemeney, Barbara Franke, Joris Veltman, Jacobine E Buizer-Voskamp, Group Investigators, Chiara Sabatti, Roel A Ophoff, Marcella Rietschel, Markus M Nöthen, Kari Stefansson, Leena Peltonen, David St Clair, Hreinn Stefansson, David A Collier
发表日期
2009/3/1
期刊
Human molecular genetics
卷号
18
期号
5
页码范围
988-996
出版商
Oxford University Press
简介
Deletions within the neurexin 1 gene (NRXN1; 2p16.3) are associated with autism and have also been reported in two families with schizophrenia. We examined NRXN1, and the closely related NRXN2 and NRXN3 genes, for copy number variants (CNVs) in 2977 schizophrenia patients and 33 746 controls from seven European populations (Iceland, Finland, Norway, Germany, The Netherlands, Italy and UK) using microarray data. We found 66 deletions and 5 duplications in NRXN1, including a de novo deletion: 12 deletions and 2 duplications occurred in schizophrenia cases (0.47%) compared to 49 and 3 (0.15%) in controls. There was no common breakpoint and the CNVs varied from 18 to 420 kb. No CNVs were found in NRXN2 or NRXN3. We performed a Cochran–Mantel–Haenszel exact test to estimate association between all CNVs and schizophrenia (P = 0.13; OR = 1.73; 95% CI 0.81–3.50 …
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D Rujescu, A Ingason, S Cichon, OPH Pietiläinen… - Human molecular genetics, 2009