Genetics of Autoimmunity

The Novartis Foundation is an international scientific and educational charity which promotes the study and general knowledge of science and in particular encourages international co-operation in scientific research.

• Symposium on Genetics of autoimmunity, held at the Novartis Foundation, London, 22-24 June 2004Editors: Gregory Bock (Organizer) and Jamie GoodeThis symposium is based on a proposal by AbulK. Abbas, David A. Hafler and John D. RiouxAbul AbbasChair's introduction 1MarkJ. DalyPatterns of genetic variation in humans and mice 2Discussion 8David B. GoldsteinHaplotype tagging in pharmacogenetics 14Discussion 19Simon J. Foote, Justin P. Rubio, Melanie Bahlo, Trevor J. Kilpatrick, Terence P. Speed, Jim Stankovich, Rachel Burfoot, Helmut Butzkueven, Laura Johnson, Chris Wilkinson, Bruce Taylor, Michele Sale, Ingrid A. F. van der Mei, Joanne L. Dickinson and Patricia GroomMultiple sclerosis: a haplotype association study 31Discussion 39Juha KereMapping genes for asthma and psoriasis 46Discussion 52Linda S. Wicker, Carolyn L. Moule, Heather Fraser, Carlos Penha-Goncalves, Dan Rainbow, Valerie E. S. Garner, Giselle Chamberlain, Kara Hunter, Sarah Howlett, Jan Clark, Andrea Gonzalez-Munoz, Anne-Marie Cumiskey, Paul Tiffen, Joanna Howson, Barry Healy, Luc J. Smink, Amanda Kingsnorth, Paul A. Lyons, Simon Gregory, Jane Rogers, John A. Todd and Laurence B. PetersonNatural genetic variants influencing type 1 diabetes in humans and in the NOD mouse 57Discussion 65Srividya Subramanian and Edward K. WakelandThe importance of epistatic interactions in the development of autoimmunity 76Discussion 88Timothy J. Vyse, Angela M. Richardson, Emily Walsh, Lisa Farwell, Mark J. Daly, Cox Terhorst and John D. RiouxMapping autoimmune disease genes in humans: lessons from IBD and SLE 94Discussion 107Martin C. Wapenaar and Cisca WijmengaA combined genetics and genomics approach to unravelling molecular pathways in coeliac disease 113Discussion 134Timothy W. Behrens, Robert R. Graham, Chieko Kyogoku, Emily C. Baechler, Paula S. Ramos, Clarence Gillett, Jason Bauer, Ward A. Ortmann, Keli L. Hippen, Erik Peterson, Carl D. Langefeld, Kathy L.Moser, Patrick M. Gaffney and Peter K. GregersenProgress towards understanding the genetic pathogenesis of systemic lupus erythematosus 145Discussion 160Vigo Heissmeyer, Fernando Macian, Rajat Varma, Sin-Hyeog Im, Franciscia Garcia-Cozar, Heidi F. Horton, Michael C. Byrne, Stefan Feske, K. Venuprasad, Hua Gu, Yun-Cai Liu, Michael L. Dustin and Anjana RaoA molecular dissection of lymphocyte unresponsiveness induced by sustained calcium signalling 165Discussion 174Adrian Liston and Christopher C. GoodnowGenetic lesions in thymic T cell clonal deletion and thresholds for autoimmunity 180Discussion 192Lalitha Vijayakrishnan, Jacqueline M. Slavik, Zsolt Illes, Dan Rainbow, Laurence B. Peterson, Arlene S. Sharpe, Linda S. Wicker and Vijay K. KuchrooAn autoimmune disease-associated CTLA4 splice variant lacking the B7 binding domain signals negatively in T cells 200Discussion 212Adrian Ting, Stefan Lichtenthaler, Ramnik Xavier, Soon-Young Na, Shahrooz Rabizadeh, Tara Holmes and Brian SeedLarge-scale screens for cDNAs with in vivo activity 219Discussion 229Jenny TingGenomic mining of new genes and pathways in innate and adaptive immunity 231Discussion 239Index of contributors 242Subject index 244