@article{165b20d87f6a455f88f81294b08db20a,
title = "Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls",
abstract = "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 pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with diseaseIRGM for Crohns disease, HLA for Crohns disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetesalthough in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.",
author = "Nick Craddock and Hurles, {Matthew E.} and Niall Cardin and Pearson, {Richard D.} and Vincent Plagnol and Samuel Robson and Damjan Vukcevic and Chris Barnes and Conrad, {Donald F.} and Eleni Giannoulatou and Chris Holmes and Marchini, {Jonathan L.} and Kathy Stirrups and Tobin, {Martin D.} and Wain, {Louise V.} and Chris Yau and Jan Aerts and Tariq Ahmad and Andrews, {T. Daniel} and Hazel Arbury and Anthony Attwood and Adam Auton and Ball, {Stephen G.} and Balmforth, {Anthony J.} and Barrett, {Jeffrey C.} and In{\^e}s Barroso and Anne Barton and Bennett, {Amanda J.} and Sanjeev Bhaskar and Katarzyna Blaszczyk and John Bowes and Brand, {Oliver J.} and Braund, {Peter S.} and Francesca Bredin and Gerome Breen and Brown, {Morris J.} and Bruce, {Ian N.} and Jaswinder Bull and Burren, {Oliver S.} and John Burton and Jake Byrnes and Sian Caesar and Clee, {Chris M.} and Coffey, {Alison J.} and Connell, {John M.C.} and Cooper, {Jason D.} and Dominiczak, {Anna F.} and Kate Downes and Drummond, {Hazel E.} and Darshna Dudakia and Andrew Dunham and Bernadette Ebbs and Diana Eccles and Sarah Edkins and Cathryn Edwards and Anna Elliot and Paul Emery and Evans, {David M.} and Gareth Evans and Steve Eyre and Anne Farmer and Ferrier, {I. Nicol} and Lars Feuk and Tomas Fitzgerald and Edward Flynn and Alistair Forbes and Liz Forty and Franklyn, {Jayne A.} and Freathy, {Rachel M.} and Polly Gibbs and Paul Gilbert and Omer Gokumen and Katherine Gordon-Smith and Emma Gray and Elaine Green and Groves, {Chris J.} and Detelina Grozeva and Rhian Gwilliam and Anita Hall and Naomi Hammond and Matt Hardy and Pile Harrison and Neelam Hassanali and Husam Hebaishi and Sarah Hines and Anne Hinks and Hitman, {Graham A.} and Lynne Hocking and Eleanor Howard and Philip Howard and Howson, {Joanna M.M.} and Debbie Hughes and Sarah Hunt and Isaacs, {John D.} and Mahim Jain and Jewell, {Derek P.} and Toby Johnson and Jolley, {Jennifer D.} and Jones, {Ian R.} and Jones, {Lisa A.} and George Kirov and Langford, {Cordelia F.} and Hana Lango-Allen and Lathrop, {G. Mark} and James Lee and Lee, {Kate L.} and Charlie Lees and Kevin Lewis and Lindgren, {Cecilia M.} and Meeta Maisuria-Armer and Julian Maller and John Mansfield and Paul Martin and Massey, {Dunecan C.O.} and McArdle, {Wendy L.} and Peter McGuffin and McLay, {Kirsten E.} and Alex Mentzer and Mimmack, {Michael L.} and Morgan, {Ann E.} and Morris, {Andrew P.} and Craig Mowat and Simon Myers and William Newman and Nimmo, {Elaine R.} and O'Donovan, {Michael C.} and Abiodun Onipinla and Ifejinelo Onyiah and Ovington, {Nigel R.} and Owen, {Michael J.} and Kimmo Palin and Kirstie Parnell and David Pernet and Perry, {John R.B.} and Anne Phillips and Dalila Pinto and Prescott, {Natalie J.} and Inga Prokopenko and Quail, {Michael A.} and Suzanne Rafelt and Rayner, {Nigel W.} and Richard Redon and Reid, {David M.} and Anthony Renwick and Ring, {Susan M.} and Neil Robertson and Ellie Russell and Clair, {David St} and Sambrook, {Jennifer G.} and Sanderson, {Jeremy D.} and Helen Schuilenburg and Scott, {Carol E.} and Richard Scott and Sheila Seal and Sue Shaw-Hawkins and Shields, {Beverley M.} and Simmonds, {Matthew J.} and Smyth, {Debbie J.} and Elilan Somaskantharajah and Katarina Spanova and Sophia Steer and Jonathan Stephens and Stevens, {Helen E.} and Stone, {Millicent A.} and Zhan Su and Symmons, {Deborah P.M.} and Thompson, {John R.} and Wendy Thomson and Travers, {Mary E.} and Clare Turnbull and Armand Valsesia and Mark Walker and Walker, {Neil M.} and Chris Wallace and Margaret Warren-Perry and Watkins, {Nicholas A.} and John Webster and Weedon, {Michael N.} and Wilson, {Anthony G.} and Matthew Woodburn and Wordsworth, {B. Paul} and Young, {Allan H.} and Eleftheria Zeggini and Carter, {Nigel P.} and Frayling, {Timothy M.} and Charles Lee and Gil McVean and Munroe, {Patricia B.} and Aarno Palotie and Sawcer, {Stephen J.} and Scherer, {Stephen W.} and Strachan, {David P.} and Chris Tyler-Smith and Brown, {Matthew A.} and Burton, {Paul R.} and Caulfield, {Mark J.} and Alastair Compston and Martin Farrall and Gough, {Stephen C.L.} and Hall, {Alistair S.} and Hattersley, {Andrew T.} and Hill, {Adrian V.S.} and Mathew, {Christopher G.} and Marcus Pembrey and Jack Satsangi and Stratton, {Michael R.} and Jane Worthington and Panos Deloukas and Audrey Duncanson and Kwiatkowski, {Dominic P.} and McCarthy, {Mark I.} and Ouwehand, {Willem H.} and Miles Parkes and Nazneen Rahman and Todd, {John A.} and Samani, {Nilesh J.} and Peter Donnelly and {The Wellcome Trust Case Control Consortium}",
year = "2010",
month = apr,
day = "1",
doi = "10.1038/nature08979",
language = "English",
volume = "464",
pages = "713--720",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "7289",
}
