Article | Published:

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

Nature Genetics volume 39, pages 13291337 (2007) | Download Citation


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.

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We would like to thank the Wellcome Trust for supporting this study, and all the individuals and controls who participated in this study.

 AITD: We thank the collection coordinators, J. Carr-Smith and all contributors to the AITD national DNA collection of index cases and family members from centres including Birmingham, Bournemouth, Cambridge, Cardiff, Exeter, Leeds, Newcastle and Sheffield. Principal leads for the AITD UK national collection are S.C. Gough (Birmingham), S.H.S. Pearce (Newcastle), B. Vaidya (Exeter), J.H. Lazarus (Cardiff), A. Allahabadia (Sheffield), M. Armitage (Bournemouth), P.J. Grant (Leeds) and V.K. Chatterjee (Cambridge).

 Ankylosing spondylitis: We thank the Arthritis Research Campaign (UK). MAB is funded by the National Health and Medical Research Council (Australia). TASC is funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases grants 1PO1-052915-01,RO1 AR046208 and RO1-AR048465, as well as by University of Texas at Houston CTSA grant UL1RR024148, Cedars-Sinai GCRC grant MO1-RR00425, The Rosalind Russell Center for Arthritis Research at The University of California San Francisco, and the Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, US National Institutes of Health. We thank R. Jin for technical assistance and L. Diekman, L. Guthrie, F. Lin and S. Morgan for their study coordination.

 Breast cancer: The breast cancer samples were clinically and molecularly curated with the assistance of A. Renwick, A. Hall, A. Elliot, H. Jayatilake, T. Chagtai, R. Barfoot, P. Kelly and K. Spanova. Our research is supported by United States Army Medical Research and Material Command grant no. W81XWH-05-1-0204, The Institute of Cancer Research and Cancer Research UK.

 MS: Our work has been supported by the Wellcome Trust (grant ref. 057097), the Medical Research Council (UK) (grant ref. G0000648), the Multiple Sclerosis Society of Great Britain and Northern Ireland (grant ref. 730/02) and the National Institutes of Health (USA) (grant ref. 049477). A.G. is a postdoctoral fellow of the Research Foundation–Flanders (FWO–Vlaanderen).

 L. Galver and P. Ng at Illumina and J. Morrison at the Sanger Institute contributed in the design of the nsSNP array. We thank the DNA team of the JDRF/WT DIL and T. Dibling, C. Hind and D. Simpkin at the Sanger Institute for carrying out the genotyping. We also thank S. Bingham and the WTCCC Inflammatory Bowel Disease group for genotyping the ARTS1 markers in their replication samples.

The complete list of authors is as follows:  Wellcome Trust Case Control Consortium Management Committee: Paul R Burton1, David G Clayton2, Lon R Cardon3,55, Nick Craddock4, Panos Deloukas5, Audrey Duncanson6, Dominic P Kwiatkowski3,5, Mark I McCarthy3,7, Willem H Ouwehand8,9, Nilesh J Samani10, John A Todd2, Peter Donnelly (Chair)11; Analysis Committee: Jeffrey C Barrett3, Paul R Burton1, Dan Davison11, Peter Donnelly11, Doug Easton12, David M Evans3, Hin-Tak Leung2, Jonathan L Marchini11, Andrew P Morris3, Chris CA Spencer11, Martin D Tobin1, Lon R Cardon3,55, David G Clayton2; UK Blood Services & University of Cambridge Controls: Antony P Attwood5,8, James P Boorman8,9, Barbara Cant8, Ursula Everson13, Judith M Hussey14, Jennifer D Jolley8, Alexandra S Knight8, Kerstin Koch8, Elizabeth Meech15, Sarah Nutland2, Christopher V Prowse16, Helen E Stevens2, Niall C Taylor8, Graham R Walters17, Neil M Walker2, Nicholas A Watkins8,9, Thilo Winzer8, John A Todd2, Willem H Ouwehand8,9; 1958 Birth Cohort Controls: Richard W Jones18, Wendy L McArdle18, Susan M Ring18, David P Strachan19, Marcus Pembrey18,20. Bipolar Disorder (Aberdeen): Gerome Breen21, David St Clair21; (Birmingham): Sian Caesar22, Katharine Gordon-Smith22,23, Lisa Jones22; (Cardiff): Christine Fraser23, Elaine K Green23, Detelina Grozeva23, Marian L Hamshere23, Peter A Holmans23, Ian R Jones23, George Kirov23, Valentina Moskivina23, Ivan Nikolov23, Michael C O’Donovan23, Michael J Owen23, Nick Craddock23; (London): David A Collier24, Amanda Elkin24, Anne Farmer24, Richard Williamson24, Peter McGuffin24; (Newcastle): Allan H Young25, I Nicol Ferrier25; Coronary Artery Disease (Leeds): Stephen G Ball26, Anthony J Balmforth26, Jennifer H Barrett26, Timothy D Bishop26, Mark M Iles26, Azhar Maqbool26, Nadira Yuldasheva26, Alistair S Hall26; (Leicester): Peter S Braund10, Paul R Burton1, Richard J Dixon10, Massimo Mangino10, Suzanne Stevens10, Martin D Tobin1, John R Thompson1, Nilesh J Samani10; Crohn’s Disease (Cambridge): Francesca Bredin27, Mark Tremelling27, Miles Parkes27; (Edinburgh): Hazel Drummond28, Charles W Lees28, Elaine R Nimmo28, Jack Satsangi28; (London): Sheila A Fisher29, Alastair Forbes30, Cathryn M Lewis29, Clive M Onnie29, Natalie J Prescott29, Jeremy Sanderson31, Christopher G Matthew29; (Newcastle): Jamie Barbour32, M Khalid Mohiuddin32, Catherine E Todhunter32, John C Mansfield32; (Oxford): Tariq Ahmad33, Fraser R Cummings33, Derek P Jewell33; Hypertension (Aberdeen): John Webster34; (Cambridge): Morris J Brown35, David G Clayton2; (Evry, France): Mark G Lathrop36; (Glasgow): John Connell37, Anna Dominiczak37; (Leicester): Nilesh J Samani10; (London): Carolina A Braga Marcano38, Beverley Burke38, Richard Dobson38, Johannie Gungadoo38, Kate L Lee38, Patricia B Munroe38, Stephen J Newhouse38, Abiodun Onipinla38, Chris Wallace38, Mingzhan Xue38, Mark Caulfield38; (Oxford): Martin Farrall39; Rheumatoid Arthritis: Anne Barton40, The Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) Steering Committee*, Ian N Bruce40, Hannah Donovan40, Steve Eyre40, Paul D Gilbert40, Samantha L Hilder40, Anne M Hinks40, Sally L John40, Catherine Potter40, Alan J Silman40, Deborah PM Symmons40, Wendy Thomson40, Jane Worthington40; Type 1 Diabetes: David G Clayton2, David B Dunger2,41, Sarah Nutland2, Helen E Stevens2, Neil M Walker2, Barry Widmer2,41, John A Todd2; Type 2 Diabetes (Exeter): Timothy M Frayling42,43, Rachel M Freathy42,43, Hana Lango42,43, John R B Perry42,43, Beverley M Shields43, Michael N Weedon42,43, Andrew T Hattersley42,43; (London): Graham A Hitman44; (Newcastle): Mark Walker45; (Oxford): Kate S Elliott3,7, Christopher J Groves7, Cecilia M Lindgren3,7, Nigel W Rayner3,7, Nicolas J Timpson3,46, Eleftheria Zeggini3,7, Mark I McCarthy3,7, Tuberculosis (Gambia): Melanie Newport47, Giorgio Sirugo47, (Oxford): Emily Lyons3, Fredrik Vannberg3, Adrian V S Hill3; Ankylosing Spondylitis: Linda A Bradbury48, Claire Farrar49, Jennifer J Pointon49, Paul Wordsworth49, Matthew A Brown48,49; Autoimmune Thyroid Disease: Jayne A Franklyn50, Joanne M Heward50, Matthew J Simmonds50, Stephen CL Gough50; Breast Cancer: Sheila Seal51, Breast Cancer Susceptibility Collaboration (UK)*, Michael R Stratton51,52, Nazneen Rahman51; Multiple Sclerosis: Maria Ban53, An Goris53, Stephen J Sawcer53, Alastair Compston53; Gambian Controls (Gambia): David Conway47, Muminatou Jallow47, Melanie Newport47, Giorgio Sirugo47; (Oxford): Kirk A Rockett3, Dominic P Kwiatkowski3,5; DNA, Genotyping, Data QC and Informatics (Wellcome Trust Sanger Institute, Hinxton): Suzannah J Bumpstead5, Amy Chaney5, Kate Downes2,5, Mohammed JR Ghori5, Rhian Gwilliam5, Sarah E Hunt5, Michael Inouye5, Andrew Keniry5, Emma King5, Ralph McGinnis5, Simon Potter5, Rathi Ravindrarajah5, Pamela Whittaker5, Claire Widden5, David Withers5, Panos Deloukas5; (Cambridge): Hin-Tak Leung2, Sarah Nutland2, Helen E Stevens2, Neil M Walker2, John A Todd2; Statistics (Cambridge): Doug Easton12, David G Clayton2; (Leicester): Paul R Burton1, Martin D Tobin1; (Oxford): Jeffrey C Barrett3, David M Evans3, Andrew P Morris3, Lon R Cardon3,55; (Oxford): Niall J Cardin11, Dan Davison11, Teresa Ferreira11, Joanne Pereira-Gale11, Ingeleif B Hallgrimsdo' ttir11, Bryan N Howie11, Jonathan L Marchini11, Chris CA Spencer11, Zhan Su11, Yik Ying Teo3,11, Damjan Vukcevic11, Peter Donnelly11; Principal Investigators: David Bentley5,54, Matthew A Brown48,49, Lon R Cardon3,55, Mark Caulfield38, David G Clayton2, Alastair Compston53, Nick Craddock23, Panos Deloukas5, Peter Donnelly11, Martin Farrall39, Stephen CL Gough50, Alistair S Hall26, Andrew T Hattersley42,43, Adrian V S Hill3, Dominic P Kwiatkowski3,5, Christopher G Matthew29, Mark I McCarthy3,7, Willem H Ouwehand8,9, Miles Parkes27, Marcus Pembrey18,20, Nazneen Rahman51, Nilesh J Samani10, Michael R Stratton51,52, John A Todd2, Jane Worthington40; AITD Replication Group: Sarah L Mitchell50, Paul R Newby50, Oliver J Brand50, Jackie Carr-Smith50, Simon H S Pearce56, Stephen C L Gough50; IL23R replication: R McGinnis5, A Keniry5, P Deloukas5, TASC. The Australo-Anglo-American Spondylitis Consortium (TASC): John D Reveille57, Xiaodong Zhou57, Linda A Bradbury58, Anne-Marie Sims58, Alison Dowling58, Jacqueline Taylor58, Tracy Doan58, Lon R Cardon55,59, John C Davis60, Jennifer J Pointon61, Laurie Savage62, Michael MWard63, Thomas L Learch64, Michael H Weisman65, Paul Wordsworth61, Matthew A Brown58,61

Author information


  1. Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK.

    • Paul R Burton
    • , Martin D Tobin
    •  & John R Thompson
  2. Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, Cambridge CB2 0XY, UK.

    • David G Clayton
    • , John A Todd
    • , Hin-Tak Leung
    • , Sarah Nutland
    • , Helen E Stevens
    • , Neil M Walker
    • , David B Dunger
    • , Barry Widmer
    •  & Kate Downes
  3. Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

    • Lon R Cardon
    • , Dominic P Kwiatkowski
    • , Mark I McCarthy
    • , Jeffrey C Barrett
    • , David M Evans
    • , Andrew P Morris
    • , Kate S Elliott
    • , Cecilia M Lindgren
    • , Nigel W Rayner
    • , Nicolas J Timpson
    • , Eleftheria Zeggini
    • , Emily Lyons
    • , Fredrik Vannberg
    • , Adrian V S Hill
    • , Kirk A Rockett
    •  & Yik Ying Teo
  4. Department of Psychological Medicine, Henry Wellcome Building, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

    • Nick Craddock
  5. The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

    • Panos Deloukas
    • , Dominic P Kwiatkowski
    • , Antony P Attwood
    • , Suzannah J Bumpstead
    • , Amy Chaney
    • , Kate Downes
    • , Mohammed JR Ghori
    • , Rhian Gwilliam
    • , Sarah E Hunt
    • , Michael Inouye
    • , Andrew Keniry
    • , Emma King
    • , Ralph McGinnis
    • , Simon Potter
    • , Rathi Ravindrarajah
    • , Pamela Whittaker
    • , Claire Widden
    • , David Withers
    • , David Bentley
    • , R McGinnis
    • , A Keniry
    •  & P Deloukas
  6. The Wellcome Trust, Gibbs Building, 215 Euston Road, London NW1 2BE, UK.

    • Audrey Duncanson
  7. Oxford Centre for Diabetes, Endocrinology and Medicine, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK.

    • Mark I McCarthy
    • , Kate S Elliott
    • , Christopher J Groves
    • , Cecilia M Lindgren
    • , Nigel W Rayner
    •  & Eleftheria Zeggini
  8. Department of Haematology, University of Cambridge, Long Road, Cambridge CB2 2PT, UK.

    • Willem H Ouwehand
    • , Antony P Attwood
    • , James P Boorman
    • , Barbara Cant
    • , Jennifer D Jolley
    • , Alexandra S Knight
    • , Kerstin Koch
    • , Niall C Taylor
    • , Nicholas A Watkins
    •  & Thilo Winzer
  9. National Health Service Blood and Transplant, Cambridge Centre, Long Road, Cambridge CB2 2PT, UK.

    • Willem H Ouwehand
    • , James P Boorman
    •  & Nicholas A Watkins
  10. Department of Cardiovascular Sciences, University of Leicester, Glenfield Hospital, Groby Road, Leicester LE3 9QP, UK.

    • Nilesh J Samani
    • , Peter S Braund
    • , Richard J Dixon
    • , Massimo Mangino
    •  & Suzanne Stevens
  11. Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK.

    • Peter Donnelly (Chair)
    • , Dan Davison
    • , Peter Donnelly
    • , Jonathan L Marchini
    • , Chris CA Spencer
    • , Niall J Cardin
    • , Teresa Ferreira
    • , Joanne Pereira-Gale
    • , Ingeleif B Hallgrimsdóttir
    • , Bryan N Howie
    • , Zhan Su
    • , Yik Ying Teo
    •  & Damjan Vukcevic
  12. Cancer Research UK Genetic Epidemiology Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK.

    • Doug Easton
  13. National Health Service Blood and Transplant, Sheffield Centre, Longley Lane, Sheffield S5 7JN, UK.

    • Ursula Everson
  14. National Health Service Blood and Transplant, Brentwood Centre, Crescent Drive, Brentwood CM15 8DP, UK.

    • Judith M Hussey
  15. The Welsh Blood Service, Ely Valley Road, Talbot Green, Pontyclun CF72 9WB, UK.

    • Elizabeth Meech
  16. The Scottish National Blood Transfusion Service, Ellen's Glen Road, Edinburgh EH17 7QT, UK.

    • Christopher V Prowse
  17. National Health Service Blood and Transplant, Southampton Centre, Coxford Road, Southampton SO16 5AF, UK.

    • Graham R Walters
  18. Avon Longitudinal Study of Parents and Children, University of Bristol, 24 Tyndall Avenue, Bristol BS8 1TQ, UK.

    • Richard W Jones
    • , Wendy L McArdle
    • , Susan M Ring
    •  & Marcus Pembrey
  19. Division of Community Health Services, St. George's University of London, Crammer Terrace, London SW17 0RE, UK.

    • David P Strachan
  20. Institute of Child Health, University College London, 30 Guilford St., London WC1N 1EH, UK.

    • Marcus Pembrey
  21. University of Aberdeen, Institute of Medical Sciences, Foresterhill, Aberdeen AB25 2ZD, UK.

    • Gerome Breen
    •  & David St Clair
  22. Department of Psychiatry, Division of Neuroscience, Birmingham University, Birmingham B15 2QZ, UK.

    • Sian Caesar
    • , Katharine Gordon-Smith
    •  & Lisa Jones
  23. Department of Psychological Medicine, Henry Wellcome Building, School of Medicine, Cardiff Univeristy, Heath Park, Cardiff CF14 4XN, UK.

    • Katharine Gordon-Smith
    • , Christine Fraser
    • , Elaine K Green
    • , Detelina Grozeva
    • , Marian L Hamshere
    • , Peter A Holmans
    • , Ian R Jones
    • , George Kirov
    • , Valentina Moskivina
    • , Ivan Nikolov
    • , Michael C O'Donovan
    • , Michael J Owen
    •  & Nick Craddock
  24. SGDP, The Institute of Psychiatry, King's College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK.

    • David A Collier
    • , Amanda Elkin
    • , Anne Farmer
    • , Richard Williamson
    •  & Peter McGuffin
  25. School of Neurology, Neurobiology and Psychiatry, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne NE1 4LP, UK.

    • Allan H Young
    •  & I Nicol Ferrier
  26. LIGHT and LIMM Research Institutes, Faculty of Medicine and Health, University of Leeds, Leeds LS1 3EX, UK.

    • Stephen G Ball
    • , Anthony J Balmforth
    • , Jennifer H Barrett
    • , Timothy D Bishop
    • , Mark M Iles
    • , Azhar Maqbool
    • , Nadira Yuldasheva
    •  & Alistair S Hall
  27. IBD Research Group, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 2QQ, UK.

    • Francesca Bredin
    • , Mark Tremelling
    •  & Miles Parkes
  28. Gastrointestinal Unit, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU UK.

    • Hazel Drummond
    • , Charles W Lees
    • , Elaine R Nimmo
    •  & Jack Satsangi
  29. Department of Medical & Molecular Genetics, King's College London School of Medicine, 8th Floor Guy's Hospital, London SE1 9RT, UK.

    • Sheila A Fisher
    • , Cathryn M Lewis
    • , Clive M Onnie
    • , Natalie J Prescott
    •  & Christopher G Matthew
  30. Institute for Digestive Diseases, University College London Hospitals Trust, London NW1 2BU, UK.

    • Alastair Forbes
  31. Department of Gastroenterology, Guy's and St. Thomas' NHS Foundation Trust, London SE1 7EH, UK.

    • Jeremy Sanderson
  32. Department of Gastroenterology & Hepatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK.

    • Jamie Barbour
    • , M Khalid Mohiuddin
    • , Catherine E Todhunter
    •  & John C Mansfield
  33. Gastroenterology Unit, Radcliffe Infirmary, University of Oxford, Oxford OX2 6HE, UK.

    • Tariq Ahmad
    • , Fraser R Cummings
    •  & Derek P Jewell
  34. Medicine and Therapeutics, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, Grampian AB9 2ZB, UK.

    • John Webster
  35. Clinical Pharmacology Unit and the Diabetes and Inflammation Laboratory, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK.

    • Morris J Brown
  36. Centre National de Genotypage, 2 Rue Gaston Cremieux, Evry, Paris 91057, France.

    • Mark G Lathrop
  37. BHF Glasgow Cardiovascular Research Centre, University of Glasgow, 126 University Place, Glasgow G12 8TA, UK.

    • John Connell
    •  & Anna Dominiczak
  38. Clinical Pharmacology and Barts and The London Genome Centre, William Harvey Research Institute, Barts and The London, Queen Mary's School of Medicine, Charterhouse Square, London EC1M 6BQ, UK.

    • Carolina A Braga Marcano
    • , Beverley Burke
    • , Richard Dobson
    • , Johannie Gungadoo
    • , Kate L Lee
    • , Patricia B Munroe
    • , Stephen J Newhouse
    • , Abiodun Onipinla
    • , Chris Wallace
    • , Mingzhan Xue
    •  & Mark Caulfield
  39. Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK.

    • Martin Farrall
  40. arc Epidemiology Research Unit, University of Manchester, Stopford Building, Oxford Rd, Manchester M13 9PT, UK.

    • Anne Barton
    • , Ian N Bruce
    • , Hannah Donovan
    • , Steve Eyre
    • , Paul D Gilbert
    • , Samantha L Hilder
    • , Anne M Hinks
    • , Sally L John
    • , Catherine Potter
    • , Alan J Silman
    • , Deborah PM Symmons
    • , Wendy Thomson
    •  & Jane Worthington
  41. Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge, CB2 2QQ, UK.

    • David B Dunger
    •  & Barry Widmer
  42. Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter EX1 2LU, UK.

    • Timothy M Frayling
    • , Rachel M Freathy
    • , Hana Lango
    • , John R B Perry
    • , Michael N Weedon
    •  & Andrew T Hattersley
  43. Diabetes Genetics, Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter EX2 5DU UK.

    • Timothy M Frayling
    • , Rachel M Freathy
    • , Hana Lango
    • , John R B Perry
    • , Beverley M Shields
    • , Michael N Weedon
    •  & Andrew T Hattersley
  44. Centre for Diabetes and Metabolic Medicine, Barts and The London, Royal London Hospital, Whitechapel, London E1 1BB, UK.

    • Graham A Hitman
  45. Diabetes Research Group, School of Clinical Medical Sciences, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK.

    • Mark Walker
  46. The MRC Centre for Causal Analyses in Translational Epidemiology, Bristol University, Canynge Hall, Whiteladies Rd., Bristol BS2 8PR, UK.

    • Nicolas J Timpson
  47. MRC Laboratories, Fajara, The Gambia.

    • Melanie Newport
    • , Giorgio Sirugo
    • , David Conway
    •  & Muminatou Jallow
  48. Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, University of Queensland, Woolloongabba, Queensland 4102, Australia.

    • Linda A Bradbury
    •  & Matthew A Brown
  49. Botnar Research Centre, University of Oxford, Headington, Oxford OX3 7BN, UK.

    • Claire Farrar
    • , Jennifer J Pointon
    • , Paul Wordsworth
    •  & Matthew A Brown
  50. Department of Medicine, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

    • Jayne A Franklyn
    • , Joanne M Heward
    • , Matthew J Simmonds
    • , Stephen CL Gough
    • , Sarah L Mitchell
    • , Paul R Newby
    • , Oliver J Brand
    • , Jackie Carr-Smith
    •  & Stephen C L Gough
  51. Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton SM2 5NG, UK.

    • Sheila Seal
    • , Michael R Stratton
    •  & Nazneen Rahman
  52. Cancer Genome Project, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

    • Michael R Stratton
  53. Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK.

    • Maria Ban
    • , An Goris
    • , Stephen J Sawcer
    •  & Alastair Compston
  54. Illumina Cambridge, Chesterford Research Park, Little Chesterford, NR Saffron Walden, Essex CB10 1XL, UK.

    • David Bentley
  55. Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, Washington 98109, USA.

    • Lon R Cardon
  56. University of Newcastle, Institute for Human Genetics, Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

    • Simon H S Pearce
  57. Rheumatology and Clinical Immunogenetics, University of Texas-Houston Medical School, Houston, Texas 77030, USA.

    • John D Reveille
    •  & Xiaodong Zhou
  58. Diamantina Institute for Cancer, Immunology and Metabolic Medicine, University of Queensland, Brisbane 4072, Australia.

    • Linda A Bradbury
    • , Anne-Marie Sims
    • , Alison Dowling
    • , Jacqueline Taylor
    • , Tracy Doan
    •  & Matthew A Brown
  59. Statistical Genetics, Wellcome Trust Centre for Human Genetics, Oxford OX37BN, UK.

    • Lon R Cardon
  60. Department of Rheumatology, University of California, San Francisco, California 94143, USA.

    • John C Davis
  61. Botnar Research Centre, University of Oxford, Oxford OX37BN, UK.

    • Jennifer J Pointon
    • , Paul Wordsworth
    •  & Matthew A Brown
  62. The Spondylitis Association of America, Sherman Oaks, California 91403, USA.

    • Laurie Savage
  63. National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

    • Michael M Ward
  64. Department of Radiology, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

    • Thomas L Learch
  65. Department of Medicine/Rheumatology, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

    • Michael H Weisman


  1. Wellcome Trust Case Control Consortium

    Analysis Committee:

    UK Blood Services & University of Cambridge Controls:

    1958 Birth Cohort Controls:

    Bipolar Disorder (Aberdeen):





    Coronary Artery Disease (Leeds):


    Crohn's Disease (Cambridge):





    Hypertension (Aberdeen):


    (Evry, France):





    Rheumatoid Arthritis:

    The Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) Steering Committee*,

    Type 1 Diabetes:

    Type 2 Diabetes (Exeter):




    Tuberculosis (Gambia):


    Ankylosing Spondylitis:

    Autoimmune Thyroid Disease:

    Breast Cancer:

    Breast Cancer Susceptibility Collaboration (UK)*,

    Multiple Sclerosis:

    Gambian Controls (Gambia):


    DNA, Genotyping, Data QC and Informatics (Wellcome Trust Sanger Institute, Hinxton):


    Statistics (Cambridge):




    Principal Investigators:

    AITD Replication Group:

    IL23R replication:

  2. The Australo-Anglo-American Spondylitis Consortium (TASC)


    Corresponding authors

    Correspondence to Lon R Cardon or David M Evans or Lon R Cardon or David M Evans or Lon R Cardon or Lon R Cardon or Lon R Cardon.

    Supplementary information

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      Supplementary Figures 1–6

    Excel files

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      Supplementary Table 1

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