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Progress in Inflammation Research
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The Hereditary Basis of Rheumatic Diseases
Rikard Holmdahl Editor
ISBN-10: 3-7643-7201-X Birkhäuser Verlag, Basel – Boston – Berlin ISBN-13: 978-3-7643-7201-9 Birkhäuser Verlag, Basel – Boston – Berlin
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Cover illustration: Infiltration of CD4 positive T cells and expression of MHC class II synovial lining cells in pannus tissue from a rheumatoid arthritic joint. By courtesy of Rikard Holmdahl and Lars Klareskog.
Printed in Germany
ISBN-10: 3-7643-7201-X e-ISBN-10: 3-7643-7419-5
ISBN-13: 978-3-7643-7201-9 e-ISBN-13: 978-3-7643-7419-8
9 8 7 6 5 4 3 2 1 www.birkhauser.ch
Editor Rikard Holmdahl
Section for Medical Inflammation Research
Department of Cell and Molecular Biology
Lund University Solvegatan 19, I11 BMC S-221 84 Lund Sweden
Library of Congress Cataloging-in-Publication Data
The hereditary basis of rheumatic diseases / Rikard Holmdahl, editor.
p. ; cm. -- (Progress in inflammation research) Includes bibliographical references and index.
ISBN-13: 978-3-7643-7201-9 (alk. paper) ISBN-10: 3-7643-7201-X (alk. paper) ISBN-13: 978-3-7643-7419-8 (e-ISBN) ISBN-10: 3-7643-7419-5 (e-ISBN)
1. Rheumatism--Genetic aspects. I. Holmdahl, Rikard, 1953- II. PIR (Series) RC927.H47 2006
616.7’23042--dc22
2006040762 Bibliographic information published by Die Deutsche Bibliothek
Die Deutsche Bibliothek lists this publication in the Deutsche Nationalbibliografie;
detailed bibliographic data is available in the internet at http://dnb.ddb.de
List of contributors . . . vii A. Introduction
Rikard Holmdahl
Genetics of joint inflammation – problems and possibilities . . . 3 B. Genetic studies on rheumatic diseases
Jane Worthington, Anne Barton and Sally L. John
The epidemiology of rheumatoid arthritis and the use of linkage and
association studies to identify disease genes . . . 9 Cornelis L. Verweij and Tineke C.T.M. van der Pouw Kraan
Heterogeneity in rheumatoid arthritis based on expression analysis:
towards personalised medicine. . . 29 Ryo Yamada and Kazuhiko Yamamoto
Gene-based large scale LD-mapping of rheumatoid arthritis-
associated genes. . . 43 C. Shared heredity of rheumatic diseases
Peter K. Gregersen and Robert M. Plenge
Emerging relationships: rheumatoid arthritis and the PTPN22 associated
autoimmune disorders. . . 61 Marta E. Alarcón-Riquelme and Sergey V. Kozyrev
Shared genes in rheumatic diseases, the role of PD1 and the RUNX genes
in disease susceptibility. . . 79 Joachim Sieper and Martin Rudwaleit
The role of B27 and other genes associated with ankylosing spondylitis . . . 89
Contents
D. Tools for analysing complexity
Ulf D. Landegren
Emerging tools for dissecting complex disease . . . 107 Thomas Häupl, Andreas Grützkau, Joachim Grün, Andreas Radbruch
and Gerd-R. Burmester
Expression analysis of rheumatic diseases, prospects and problems. . . 119 Kary A. Latham, Timothy D. Kayes, Zhaohui Qian and Edward F. Rosloniec
The use of humanized MHC mouse strains for studies of
rheumatic diseases . . . 131 Shimon Sakaguchi, Takeshi Takahashi, Hiroshi Hata, Hiroyuki Yoshitomi,
Satoshi Tanaka, Keiji Hirota, Takashi Nomura and Noriko Sakaguchi SKG mice, a monogenic model of autoimmune arthritis due to
altered signal transduction in T-cells . . . 147 Peter J. Olofsson
A genetic approach to select and validate new targets for treatment of
rheumatic diseases. . . 161 Index . . . 175
vii Marta E. Alarcón-Riquelme, Department of Genetics and Pathology, Rudbeck Lab- oratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85 Uppsala, Sweden;
e-mail: marta.alarcon@genpat.uu.se
Anne Barton, Arthritis Research Campaign Epidemiology Unit, University of Man- chester, Manchester, M13 9PT, UK
Gerd-R. Burmester, Department of Rheumatology and Clinical Immunology, Char- ité University Hospital, Schumannstrasse 20/21, 10117 Berlin, Germany;
e-mail: gerd.burmester@charite.de
Peter K. Gregersen, Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, 350 Com- munity Drive, Manhasset, New York 11030, USA; e-mail: peterg@nshs.edu Joachim Grün, oligene GmbH, Schumannstrasse 20/21, 10117 Berlin, Germany;
e-mail: gruen@drfz.de
Andreas Grützkau, German Arthritis Research Center, Schumannstrasse 20/21, 10117 Berlin, Germany; e-mail: gruetzkau@drfz.de
Thomas Häupl, Department of Rheumatology and Clinical Immunology, Charité University Hospital, Tucholskystrasse 2, 10117 Berlin, Germany;
e-mail: thomas.haeupl@charite.de
Hiroshi Hata, Department of Experimental Pathology, Institute for Frontier Med- ical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606- 8507, Japan
Keiji Hirota, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan
List of contributors
viii
Rikard Holmdahl, Medical Inflammation Research, BMC I11, Lund University, S- 22184 Lund, Sweden; e-mail: Rikard.Holmdahl@med.lu.se
Sally L. John, Arthritis Research Campaign Epidemiology Unit, University of Man- chester, Manchester, M13 9PT, UK
Timothy D. Kayes, Department of Pathology, University of Tennessee Health Sci- ence Center, Memphis, TN 38163, USA; e-mail: tkayes@utmem.edu
Sergey V. Kozyrev, Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, 751 85 Uppsala, Sweden
Ulf D. Landegren, Department of Genetics and Pathology/Molecular Medicine, Rudbeck Laboratory, Dag Hammarskjoldvag 20, 75185 Uppsala, Sweden;
e-mail: ulf.landegren@genpat.uu.se
Kary A. Latham, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA; e-mail: klatham@utmem.edu
Takashi Nomura, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan
Peter Olofsson, Arexis AB, Arvid Wallgrens Backe 20, 41346 Göteborg, Sweden;
e-mail: peter.olofsson@arexis.com
Robert M. Plenge, Broad Institute of MIT and Harvard, Division of Rheumatology, Allergy and Immunology, Brigham and Women’s Hospital, Cambridge, MA, USA Zhaohui Qian, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA; e-mail: zqian@utmem.edu
Andreas Radbruch, German Arthritis Research Center, Schumannstrasse 20/21, 10117 Berlin, Germany; e-mail: radbruch@drfz.de
Edward F. Rosloniec, Departments of Medicine and Pathology, University of Ten- nessee Health Science Center, Memphis, TN 38163, and Veterans Affairs Medical Center, Memphis, TN 38104, USA; e-mail: erosloniec@utmem.edu
Martin Rudwaleit, Rheumatology, Department of Medicine , Charitè, Campus Ben- jamin Franklin, Hindenburgdamm 30, 12200 Berlin, Germany
List of contributors
Noriko Sakaguchi, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan; e-mail: norikos@frontier.kyoto-u.ac.jp
Shimon Sakaguchi, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan; e-mail: shimon@frontier.kyoto-u.ac.jp
Joachim Sieper, Rheumatology, Department of Medicine , Charitè, Campus Ben- jamin Franklin, Hindenburgdamm 30, 12200 Berlin, Germany;
e-mail: joachim.sieper@charite.de
Takeshi Takahashi, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan
Satoshi Tanaka, Department of Experimental Pathology, Institute for Frontier Med- ical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606- 8507, Japan
Tineke C.T.M. van der Pouw Kraan, Department of Molecular Cell Biology and Immunology, C270, VU Medical Centre, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands
Cornelis L. Verweij, Department of Molecular Cell Biology and Immunology, C270, VU Medical Centre, P.O. Box 7057, 1007 MB Amsterdam, The Netherlands;
e-mail: c.verweij@vumc.nl
Jane Worthington, Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, M13 9PT, UK; e-mail: Jane.Worthington@man.ac.uk Ryo Yamada, Laboratory for Rheumatic Diseases, SNP Research Center (E508), RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa-ken 230-0045, Japan; e-mail: ryamada@src.riken.go.jp
Kazuhiko Yamamoto, Laboratory for Rheumatic Diseases, SNP Research Center (E508), RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa-ken 230- 0045, Japan; and Department of Allergy and Rheumatology, Graduate School of Medicine, University of Tokyo, Tokyo 113-8655, Japan
Hiroyuki Yoshitomi, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan
ix
List of contributors
