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

Author

Listed:
  • 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)

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.

Suggested Citation

  • 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 , 2013. "Negligible impact of rare autoimmune-locus coding-region variants on missing heritability," Nature, Nature, vol. 498(7453), pages 232-235, June.
    • Handle: RePEc:nat:nature:v:498:y:2013:i:7453:d:10.1038_nature12170
    DOI: 10.1038/nature12170
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