作者
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli PH Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp, Thomas Hansen, Klaus D Jakobsen, Pierandrea Muglia, Clyde Francks, Paul M Matthews, Arnaldur Gylfason, Bjarni V Halldorsson, Daniel Gudbjartsson, Thorgeir E Thorgeirsson, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Bjornsson, Sigurborg Mattiasdottir, Thorarinn Blondal, Magnus Haraldsson, Brynja B Magnusdottir, Ina Giegling, Hans-Jürgen Möller, Annette Hartmann, Kevin V Shianna, Dongliang Ge, Anna C Need, Caroline Crombie, Gillian Fraser, Nicholas Walker, Jouko Lonnqvist, Jaana Suvisaari, Annamarie Tuulio-Henriksson, Tiina Paunio, Timi Toulopoulou, Elvira Bramon, Marta Di Forti, Robin Murray, Mirella Ruggeri, Evangelos Vassos, Sarah Tosato, Muriel Walshe, Tao Li, Catalina Vasilescu, Thomas W Mühleisen, August G Wang, Henrik Ullum, Srdjan Djurovic, Ingrid Melle, Jes Olesen, Lambertus A Kiemeney, Barbara Franke, GROUP Kahn René S. 32 Linszen Don H. 33 van Os Jim 34 Wiersma Durk Bruggeman Richard 35 Cahn Wiepke 32 de Haan Lieuwe 33 Krabbendam Lydia 34 Myin-Germeys Inez 34, Chiara Sabatti, Nelson B Freimer, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Ole A Andreassen, Roel A Ophoff, Alexander Georgi, Marcella Rietschel, Thomas Werge, Hannes Petursson, David B Goldstein, Markus M Nöthen, Leena Peltonen, David A Collier, David St Clair, Kari Stefansson
发表日期
2008/9/11
期刊
nature
卷号
455
期号
7210
页码范围
232-236
出版商
Nature Publishing Group UK
简介
Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation, and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 …
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H Stefansson, D Rujescu, S Cichon, OPH Pietiläinen… - nature, 2008