Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

Karen A. Hunt, Vanisha Mistry, Nicholas A. Bockett, Tariq Ahmad, Maria Ban, Jonathan N. Barker, Jeffrey C. Barrett, Hannah Blackburn, Oliver Brand, Oliver Burren, Francesca Capon, Alastair Compston, Stephen C. L. Gough, Luke Jostins, Yong Kong, James C. Lee, Monkol Lek, Daniel G. MacArthur, John C. Mansfield, Christopher G. Mathew, Charles A. Mein, Muddassar Mirza, Sarah Nutland, Suna Onengut-Gumuscu, Efterpi Papouli, Miles Parkes, Stephen S. Rich, Steven Sawcer, Jack Satsangi, Matthew J. Simmonds, Richard C. Trembath, Neil M. Walker, Eva Wozniak, John A. Todd, Michael A. Simpson, Vincent Plagnol () and David A. van Heel ()
Additional contact information
Karen A. Hunt: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK
Vanisha Mistry: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK
Nicholas A. Bockett: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK
Tariq Ahmad: Peninsula College of Medicine and Dentistry, Barrack Road, Exeter EX2 5DW, UK
Maria Ban: University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK
Jonathan N. Barker: King’s College London School of Medicine, 8th Floor Tower Wing, Guy’s Hospital, London SE1 9RT, UK
Jeffrey C. Barrett: Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
Hannah Blackburn: Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
Oliver Brand: Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
Oliver Burren: Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
Francesca Capon: King’s College London School of Medicine, 8th Floor Tower Wing, Guy’s Hospital, London SE1 9RT, UK
Alastair Compston: University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK
Stephen C. L. Gough: Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
Luke Jostins: Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
Yong Kong: W.M. Keck Foundation Biotechnology Resource Laboratory, Yale University
James C. Lee: University of Cambridge School of Clinical Medicine, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK
Monkol Lek: Analytic and Translational Genetics Unit, Massachusetts General Hospital
Daniel G. MacArthur: Analytic and Translational Genetics Unit, Massachusetts General Hospital
John C. Mansfield: Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
Christopher G. Mathew: King’s College London School of Medicine, 8th Floor Tower Wing, Guy’s Hospital, London SE1 9RT, UK
Charles A. Mein: Genome Centre, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK
Muddassar Mirza: King’s College London School of Medicine, 8th Floor Tower Wing, Guy’s Hospital, London SE1 9RT, UK
Sarah Nutland: Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
Suna Onengut-Gumuscu: Center for Public Health Genomics, University of Virginia
Efterpi Papouli: King’s College London School of Medicine, 8th Floor Tower Wing, Guy’s Hospital, London SE1 9RT, UK
Miles Parkes: University of Cambridge School of Clinical Medicine, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK
Stephen S. Rich: Center for Public Health Genomics, University of Virginia
Steven Sawcer: University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK
Jack Satsangi: Gastrointestinal Unit, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
Matthew J. Simmonds: Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
Richard C. Trembath: Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK
Neil M. Walker: Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
Eva Wozniak: Genome Centre, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK
John A. Todd: Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
Michael A. Simpson: King’s College London School of Medicine, 8th Floor Tower Wing, Guy’s Hospital, London SE1 9RT, UK
Vincent Plagnol: University College London Genetics Institute, Gower Street, London WC1E 6BT, UK
David A. van Heel: Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK

Nature, 2013, vol. 498, issue 7453, 232-235

Abstract: A search for variants in coding exons of 25 genome-wide association study risk genes in a large cohort of autoimmune patients finds that rare coding-region variants at known loci have a negligible role in common autoimmune disease susceptibility, arguing against the previously proposed rare-variant synthetic genome-wide association hypothesis.

Date: 2013
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DOI: 10.1038/nature12170

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