Progress in Inflammation Research

Transcription

1 Progress in Inflammation Research Series Editor Prof. Michael J. Parnham PhD Senior Scientific Advisor PLIVA Research Institute Ltd. Prilaz baruna Filipovića 29 HR Zagreb Croatia Advisory Board G. Z. Feuerstein (Wyeth Research, Collegeville, PA, USA) M. Pairet (Boehringer Ingelheim Pharma KG, Biberach a. d. Riss, Germany) W. van Eden (Universiteit Utrecht, Utrecht, The Netherlands) Forthcoming titles: Chemokine Biology: Basic Research and Clinical Appliation, Volume II: Pathophysiology of Chemokines, K. Neote, G.L. Letts, B. Moser (Editors), 2006 Endothelial Dysfunction and Inflammation, A. Graham (Editor), 2006 In vivo Models of Inflammation, 2nd edition, C. S. Stevenson, D. W. Morgan, L. A. Marshall (Editors), 2006 Lymphocyte Trafficking in Health and Disease, R. Badolato, S. Sozzani (Editors), 2006 The Resolution of Inflammation, A.G. Rossi, D.A. Sawatzky (Editors), 2006 (Already published titles see last page.)

2 The Hereditary Basis of Rheumatic Diseases Rikard Holmdahl Editor Birkhäuser Verlag Basel Boston Berlin

3 Editor Rikard Holmdahl Section for Medical Inflammation Research Department of Cell and Molecular Biology Lund University Solvegatan 19, I11 BMC S 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: (alk. paper) ISBN-10: X (alk. paper) ISBN-13: (e-isbn) ISBN-10: (e-isbn) 1. Rheumatism--Genetic aspects. I. Holmdahl, Rikard, II. PIR (Series) RC927.H dc 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 ISBN-10: X Birkhäuser Verlag, Basel Boston Berlin ISBN-13: Birkhäuser Verlag, Basel Boston Berlin The publisher and editor can give no guarantee for the information on drug dosage and administration contained in this publication. The respective user must check its accuracy by consulting other sources of reference in each individual case. The use of registered names, trademarks etc. in this publication, even if not identified as such, does not imply that they are exempt from the relevant protective laws and regulations or free for general use. This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, re-use of illustrations, recitation, broadcasting, reproduction on microfilms or in other ways, and storage in data banks. For any kind of use, permission of the copyright owner must be obtained Birkhäuser Verlag, P.O. Box 133, CH-4010 Basel, Switzerland Part of Springer Science+Business Media Printed on acid-free paper produced from chlorine-free pulp. TCF Cover design: Markus Etterich, Basel 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: X e-isbn-10: ISBN-13: e-isbn-13:

4 Contents List of contributors vii A. Introduction Rikard Holmdahl Genetics of joint inflammation problems and possibilities 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 Cornelis L. Verweij and Tineke C.T.M. van der Pouw Kraan Heterogeneity in rheumatoid arthritis based on expression analysis: towards personalised medicine Ryo Yamada and Kazuhiko Yamamoto Gene-based large scale LD-mapping of rheumatoid arthritisassociated genes C. Shared heredity of rheumatic diseases Peter K. Gregersen and Robert M. Plenge Emerging relationships: rheumatoid arthritis and the PTPN22 associated autoimmune disorders Marta E. Alarcón-Riquelme and Sergey V. Kozyrev Shared genes in rheumatic diseases, the role of PD1 and the RUNX genes in disease susceptibility Joachim Sieper and Martin Rudwaleit The role of B27 and other genes associated with ankylosing spondylitis

5 D. Tools for analysing complexity Ulf D. Landegren Emerging tools for dissecting complex disease Thomas Häupl, Andreas Grützkau, Joachim Grün, Andreas Radbruch and Gerd-R. Burmester Expression analysis of rheumatic diseases, prospects and problems Kary A. Latham, Timothy D. Kayes, Zhaohui Qian and Edward F. Rosloniec The use of humanized MHC mouse strains for studies of rheumatic diseases 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 Peter J. Olofsson A genetic approach to select and validate new targets for treatment of rheumatic diseases Index

6 List of contributors Marta E. Alarcón-Riquelme, Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, Uppsala, Sweden; Anne Barton, Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, M13 9PT, UK Gerd-R. Burmester, Department of Rheumatology and Clinical Immunology, Charité University Hospital, Schumannstrasse 20/21, Berlin, Germany; Peter K. Gregersen, Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, North Shore LIJ Health System, 350 Community Drive, Manhasset, New York 11030, USA; Joachim Grün, oligene GmbH, Schumannstrasse 20/21, Berlin, Germany; Andreas Grützkau, German Arthritis Research Center, Schumannstrasse 20/21, Berlin, Germany; Thomas Häupl, Department of Rheumatology and Clinical Immunology, Charité University Hospital, Tucholskystrasse 2, Berlin, Germany; Hiroshi Hata, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto , Japan Keiji Hirota, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto , Japan vii

7 List of contributors Rikard Holmdahl, Medical Inflammation Research, BMC I11, Lund University, S Lund, Sweden; Sally L. John, Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, M13 9PT, UK Timothy D. Kayes, Department of Pathology, University of Tennessee Health Science Center, Memphis, TN 38163, USA; Sergey V. Kozyrev, Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Dag Hammarskjölds väg 20, Uppsala, Sweden Ulf D. Landegren, Department of Genetics and Pathology/Molecular Medicine, Rudbeck Laboratory, Dag Hammarskjoldvag 20, Uppsala, Sweden; Kary A. Latham, Department of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA; Takashi Nomura, Department of Experimental Pathology, Institute for Frontier , Japan Peter Olofsson, Arexis AB, Arvid Wallgrens Backe 20, Göteborg, Sweden; 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; zqian@utmem.edu Andreas Radbruch, German Arthritis Research Center, Schumannstrasse 20/21, Berlin, Germany; radbruch@drfz.de Edward F. Rosloniec, Departments of Medicine and Pathology, University of Tennessee Health Science Center, Memphis, TN 38163, and Veterans Affairs Medical Center, Memphis, TN 38104, USA; erosloniec@utmem.edu Martin Rudwaleit, Rheumatology, Department of Medicine, Charitè, Campus Benjamin Franklin, Hindenburgdamm 30, Berlin, Germany viii

8 List of contributors Noriko Sakaguchi, Department of Experimental Pathology, Institute for Frontier , Japan; Shimon Sakaguchi, Department of Experimental Pathology, Institute for Frontier , Japan; Joachim Sieper, Rheumatology, Department of Medicine, Charitè, Campus Benjamin Franklin, Hindenburgdamm 30, Berlin, Germany; Takeshi Takahashi, Department of Experimental Pathology, Institute for Frontier , Japan Satoshi Tanaka, Department of Experimental Pathology, Institute for Frontier Medical Sciences, Kyoto University, 53 Shogoin Kawahara-cho, Sakyo-ku, Kyoto , 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; Jane Worthington, Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, M13 9PT, UK; Ryo Yamada, Laboratory for Rheumatic Diseases, SNP Research Center (E508), RIKEN, Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa-ken , Japan; Kazuhiko Yamamoto, Laboratory for Rheumatic Diseases, SNP Research Center (E508), RIKEN, Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa-ken , Japan; and Department of Allergy and Rheumatology, Graduate School of Medicine, University of Tokyo, Tokyo , Japan Hiroyuki Yoshitomi, Department of Experimental Pathology, Institute for Frontier , Japan ix