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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

2007; Nature Portfolio; Volume: 39; Issue: 11 Linguagem: Inglês

10.1038/ng.2007.17

1546-1718

Paul R. Burton, David Clayton, Lon R. Cardon, Nick Craddock, Panos Deloukas, Audrey Duncanson, Dominic Kwiatkowski, Mark I. McCarthy, Willem H. Ouwehand, Nilesh J. Samani, John A. Todd, Peter Donnelly, Jeffrey C. Barrett, Dan Davison, Doug Easton, David M. Evans, H.T. Leung, Jonathan Marchini, Andrew P. Morris, Chris C. A. Spencer, Martin D. Tobin, Antony Attwood, James P. Boorman, Barbara Cant, Ursula Everson, Judith M. Hussey, Jennifer D. Jolley, Alexandra S. Knight, Kerstin Koch, Elizabeth Meech, Sarah Nutland, C V Prowse, Helen E Stevens, Niall Taylor, Graham R. Walters, Neil Walker, Nicholas A. Watkins, Thilo Winzer, Richard W. Jones, Wendy L. McArdle, Susan M. Ring, David P. Strachan, Marcus Pembrey, Gerome Breen, David St Clair, Sian Caesar, Katharine Gordon-Smith, Lisa Jones, Christine Fraser, Elaine Green, Detelina Grozeva, Marian L. Hamshere, Peter Holmans, Ian Jones, George Kirov, Valentina Moskivina, Ivan Nikolov, Michael O’Donovan, Michael J. Owen, David Collier, Amanda Elkin, Anne Farmer, Richard Williamson, Peter McGuffin, Allan H. Young, I. Nicol Ferrier, Stephen G. Ball, Anthony J. Balmforth, Jennifer H. Barrett, D. Timothy Bishop, Mark M. Iles, Azhar Maqbool, Nadira Yuldasheva, Alistair S. Hall, Peter S. Braund, Richard J. Dixon, Massimo Mangino, Suzanne Stevens, John R. Thompson, Francesca Bredin, Mark Tremelling, Miles Parkes, Hazel E. Drummond, Charlie W. Lees, Elaine R. Nimmo, Jack Satsangi, Sheila Fisher, Alastair Forbes, Cathryn M. Lewis, Clive M. Onnie, Natalie J. Prescott, Jeremy Sanderson, Christopher G Matthew, Jamie Barbour, Mohamed Khalid Mohiuddin, Catherine E Todhunter, John Mansfield, Tariq Ahmad, Fraser Cummings, Derek P. Jewell, John Webster, Matthew A. Brown, Mark G. Lathrop, John Connell, Anna F. Dominiczak, C Marcano, Beverley Burke, Richard Dobson, Johannie Gungadoo, Leena Peltonen, Patricia B. Munroe, Stephen Newhouse, Abiodun Onipinla, Chris Wallace, Mingzhan Xue, Mark J. Caulfield, Martin Farrall, Anne Barton, Ian N Bruce, Hannah Donovan, Stephen Eyre, Paul Gilbert, Samantha L Hilder, Anne Hinks, Sally John, Catherine Potter, Alan J. Silman, Deborah Symmons, Wendy Thomson, Jane Worthington, David B. Dunger, Barry Widmer, Timothy M. Frayling, Rachel M. Freathy, Hana Lango Allen, John R. B. Perry, Beverley M. Shields, Michael N. Weedon, Andrew T. Hattersley, G. A. Hitman, Mark Walker, Kate Elliott, Christopher J. Groves, Cecilia M. Lindgren, Nigel W. Rayner, Nicholas J. Timpson, Eleftheria Zeggini, Melanie J. Newport, Giorgio Sirugo, Emily J. Lyons, Fredrik Vannberg, Adrian V. S. Hill, Linda A. Bradbury, Claire Farrar, Jennifer J. Pointon, P Wordsworth, Matthew A. Brown, Jayne A. Franklyn, J. M. Heward, Matthew J. Simmonds, Stephen Gough, Sheila Seal, Michael R. Stratton, Nazneen Rahman, Maria Ban, An Goris, Stephen Sawcer, Alastair Compston, David J. Conway, Muminatou Jallow, Melanie J. Newport, Giorgio Sirugo, Kirk A. Rockett, Suzannah J. Bumpstead, Amy Chaney, Kate Downes, Mohammed J. R. Ghori, Rhian Gwilliam, Sarah Hunt, Michael Inouye, Andrew Keniry, Emma King, Ralph McGinnis, Simon Potter, Rathi Ravindrarajah, Pamela Whittaker, Claire Widden, David Withers, Niall J. Cardin, Dan Davison, Teresa Ferreira, Joanne Pereira-Gale, Alistair S. Hall, Bryan Howie, Zhan Su, Yik Ying Teo, Damjan Vukcevic, David Bentley, Matthew A. Brown, Alastair Compston, Martin Farrall, Alistair S. Hall, Andrew T. Hattersley, Adrian V. S. Hill, Miles Parkes, Marcus Pembrey, Michael R. Stratton, Sarah Mitchell, Paul Newby, Stephan Brand, Jackie Carr‐Smith, Simon H. S. Pearce, Ralph McGinnis, Andrew Keniry, Panos Deloukas, John D. Reveille, Xiaodong Zhou, Anne-Marie Sims, Alison Dowling, Jacqueline Taylor, Tracy Doan, John C. Davis, Laurie Savage, Michael M. Ward, Thomas L Learch, Michael H. Weisman, Mathew R. Brown,

T-cell and B-cell Immunology

We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.