Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls

  title={Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls},
  author={Nick J. Craddock and Matthew E. Hurles and Niall Cardin and Richard D. Pearson and Vincent Plagnol and Samuel C. Robson and Damjan Vukcevic and Chris Barnes and Donald F. Conrad and Eleni Giannoulatou and Chris Holmes and Jonathan Marchini and Kathy Stirrups and Martin D Tobin and Louise V Wain and Chris Yau and Jan Aerts and Tariq Ahmad and T. Daniel Andrews and Hazel Arbury and Anthony Attwood and Adam Auton and Stephen G. Ball and Anthony J. Balmforth and Jeffrey C. Barrett and In{\^e}s Barroso and Anne Barton and Amanda J. Bennett and Sanjeev S. Bhaskar and Katarzyna Blaszczyk and John Bowes and Oliver J. Brand and Peter S. Braund and Francesca Bredin and Gerome Breen and Morris Jonathan Brown and Ian N. Bruce and Jaswinder Bull and Oliver S. Burren and John A Burton and Jake K. Byrnes and Sian Caesar and Chris Clee and Alison J. Coffey and John M. Connell and Jason. D Cooper and Anna F. Dominiczak and Kate Downes and Hazel E. Drummond and Darshna Dudakia and Andrew Dunham and Bernadette Ebbs and Diana Eccles and Sarah J Edkins and Cathryn Edwards and Anna Elliot and Paul F. Emery and David M. Evans and Gareth Evans and Stephen Eyre and Anne Farmer and I. Nicol Ferrier and Lars Feuk and Tomas Fitzgerald and E. J. Flynn and Alistair Forbes and Liz Forty and Jayne A. Franklyn and Rachel M Freathy and Polly Gibbs and Paul Gilbert and Omer Gokumen and Katherine Gordon-Smith and Emma A Gray and Elaine K Green and Chris J Groves and Detelina Grozeva and Rhian Gwilliam and Anita C Hall and Naomi Hammond and Matt E. Hardy and Pile Harrison and Neelam Hassanali and Husam Hebaishi and Sarah Hines and Anne Hinks and Graham A. Hitman and Lynne J. Hocking and Eleanor K. Howard and Philip S. S. Howard and Joanna M. M. Howson and Debbie Hughes and Sarah Hunt and John Dudley Isaacs and Mahim Jain and Derek P. Jewell and Toby Johnson and Jennifer D M Jolley and Ian Jones and Lisa A. Jones and George Kirov and Cordelia Langford and Hana Lango-Allen and G. M. Lathrop and James J Lee and Kate L Lee and Charlie W. Lees and Kevin Lewis and Cecilia M. Lindgren and Meeta Maisuria-Armer and Julian B. Maller and J. Mansfield and Paul Martin and Dunecan C O Massey and Wendy L. Mcardle and Peter McGuffin and Kirsten E McLay and A Lexi Mentzer and Michael L Mimmack and Ann E Morgan and Andrew P. Morris and Craig Mowat and Simon Richard Myers and W. Newman and Elaine R. Nimmo and Michael C. O'Donovan and Abiodun K Onipinla and Ifejinelo Onyiah and Nigel R Ovington and Michael J Owen and Kimmo Palin and Kirstie S Parnell and David E Pernet and John R. B. Perry and Anne C. Phillips and Dalila Pinto and Natalie J Prescott and Inga Prokopenko and Michael A. Quail and Suzanne E Rafelt and Nigel William Rayner and Richard Redon and David M. Reid and Renwick and Susan M. Ring and Neil Robertson and Ellie Russell and David St Clair and Jennifer G. Sambrook and Jeremy David Sanderson and Helen Schuilenburg and Carol E. Scott and Richard C Scott and Sheila Seal and Sue Shaw-Hawkins and Beverley M Shields and Matthew J. Simmonds and Debbie J Smyth and Elilan Somaskantharajah and Katarina Spanova and Sophia Steer and Jonathan P. Stephens and Helen E. Stevens and Millicent A. Stone and Zhan Su and Deborah P. M. Symmons and John R. Thompson and Wendy Thomson and Mary E. Travers and Clare Turnbull and Armand Valsesia and Mark J Walker and Neil M. Walker and Chris Wallace and Margaret Warren-Perry and Nicholas A. Watkins and John Webster and M. N. Weedon and Anthony Gerard Wilson and Matthew Woodburn and Bryan Paul Wordsworth and Allan Hunter Young and Eleftheria Zeggini and Nigel P. Carter and Timothy M. Frayling and Charles Lee and Gilean McVean and Patricia B. Munroe and Aarno V Palotie and Stephen J Sawcer and Stephen W. Scherer and David P. Strachan and Chris Tyler-Smith and Matthew A Brown and Paul R. Burton and Mark J. Caulfield and Alastair D Compston and Martin Farrall and Stephen C. L. Gough and Alistair Scott Hall and Andrew T Hattersley and Adrian V S Hill and Christopher G Mathew and Marcus Pembrey and Jack Satsangi and Michael R. Stratton and Jane Worthington and Panagiotis Deloukas and Audrey Duncanson and Dominic P Kwiatkowski and Mark I. McCarthy and Willem H Ouwehand and M. B. A. Parkes and Nazneen Rahman and John A. Todd and Nilesh J. Samani and Peter Donnelly},
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed ∼19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated ∼50% of all common CNVs larger than 500 base… CONTINUE READING