Genetics of Autoimmunity

This title provides an extremely helpful analysis of genes that may be associated with autoimmunity, and answers questions such as how these genes can be identified, and how the functions of the gene products can be elucidated. Incorporating data on disease-associated chromosomal loci that has been accumulated from inbred mice, the title: descibes how some susceptibility loci may be common to many diseases, whereas others are relatively disease specific discusses the importance of developing criteria for establishing the significance of these different categories of disease-associated loci.

Symposium on Genetics of autoimmunity, held at the Novartis Foundation, London, 22-24 June 2004 Editors: Gregory Bock (Organizer) and Jamie Goode This symposium is based on a proposal by AbulK. Abbas, David A. Hafler and John D. Rioux Abul Abbas Chair's introduction 1 MarkJ. Daly Patterns of genetic variation in humans and mice 2 Discussion 8 David B. Goldstein Haplotype tagging in pharmacogenetics 14 Discussion 19 Simon 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 Groom Multiple sclerosis: a haplotype association study 31 Discussion 39 Juha Kere Mapping genes for asthma and psoriasis 46 Discussion 52 Linda 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. Peterson Natural genetic variants influencing type 1 diabetes in humans and in the NOD mouse 57 Discussion 65 Srividya Subramanian and Edward K. Wakeland The importance of epistatic interactions in the development of autoimmunity 76 Discussion 88 Timothy J. Vyse, Angela M. Richardson, Emily Walsh, Lisa Farwell, Mark J. Daly, Cox Terhorst and John D. Rioux Mapping autoimmune disease genes in humans: lessons from IBD and SLE 94 Discussion 107 Martin C. Wapenaar and Cisca Wijmenga A combined genetics and genomics approach to unravelling molecular pathways in coeliac disease 113 Discussion 134 Timothy 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. Gregersen Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus 145 Discussion 160 Vigo 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 Rao A molecular dissection of lymphocyte unresponsiveness induced by sustained calcium signalling 165 Discussion 174 Adrian Liston and Christopher C. Goodnow Genetic lesions in thymic T cell clonal deletion and thresholds for autoimmunity 180 Discussion 192 Lalitha Vijayakrishnan, Jacqueline M. Slavik, Zsolt Illes, Dan Rainbow, Laurence B. Peterson, Arlene S. Sharpe, Linda S. Wicker and Vijay K. Kuchroo An autoimmune disease-associated CTLA4 splice variant lacking the B7 binding domain signals negatively in T cells 200 Discussion 212 Adrian Ting, Stefan Lichtenthaler, Ramnik Xavier, Soon-Young Na, Shahrooz Rabizadeh, Tara Holmes and Brian Seed Large-scale screens for cDNAs with in vivo activity 219 Discussion 229 Jenny Ting Genomic mining of new genes and pathways in innate and adaptive immunity 231 Discussion 239 Index of contributors 242 Subject index 244