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Candidate gene region 2q33 in European families with coeliac disease


  • Participants in the European Genetics Cluster on Coeliac Disease (project partner group leaders are in italics): Finland – P. Holopainen, K. Karell, N. Woolley, K. Haimila, J. Partanen (Department of Tissue Typing and Research Unit, Finnish Red Cross Blood Transfusion Service, Helsinki), P. Collin, K. Mustalahti, M. Mäki (Institute of Medical Technology and Department of Pediatrics, University of Tampere, Tampere). France –F. Clerget-Darpoux, M-C. Babron (INSERM U535, Le Kremlin-Bicêtre, Paris), F. Clot (INSERM U535, Le Kremlin-Bicêtre; Fondation Jean Dausset – CEPH, Paris), J-P. Hugot (Fondation Jean Dausset – CEPH, Paris; Hôpital Robert Debré, Paris). Italy – S. D'Alfonso, E. Bolognesi, M. Giordano, M. Mellai, P. Momigliano-Richiardi [Department Medical Sciences, Eastern Piedmont University and I.R.C.A.D. (Interdisciplinary Research Center on Autoimmune Diseases), Novara], I. Coto, L. Greco, S. Percopo (Department of Paediatrics and International Laboratory for Food Induced Diseases, University of Naples Feredico II, Naples). Norway – A.S. Louka, L.M. Sollid and B. Talseth (Institute of Immunology, Rikshospitalet University Hospital, Oslo), J. Ek (Buskerud Hospital Trust, Drammen). Sweden –H. Ascher, A.H. Gudjónsdóttir, B. Kristiansson (Department of Paediatrics, Göteborg University, The Queen Silvia Children's Hospital, Göteborg), S. Adamovic, T. Martinsson, L. Samuelsson, Å. Torinsson Naluai, J. Wahlström (Department of Clinical Genetics, Göteborg University, Sahlgrenska University Hospital/Östra, Göteborg), S. Nilsson, Olle Nerman (Department of Mathematics, Chalmers University of Technology, Göteborg). United Kingdom –P.J. Ciclitira, JS. Fraser, AL. King, SJ. Moodie (Gastroenterology Unit, GKT, The Rayne Institute, St Thomas's Hospital, London).

Päivi Holopainen
Swiss Institute of Allergy and Asthma Research
Obere Strasse 22
7270 Davos Platz, Switzerland
Tel.: +41-81-4100852
Fax: +41-81-4100840


Abstract:  Chromosome region 2q33 harbours a cluster of genes, CTLA-4, CD28, ICOS and closely located PD-1, all related to immune activation and considered as promising candidate genes for susceptibility to coeliac disease (CD). We present here the results of a genetic linkage and association analysis of nine markers located in this gene region in a large combined European material of 796 families with CD from Finland, Sweden, Norway, UK, France and Italy. The joint analysis supports earlier findings that this susceptibility locus, assigned as CELIAC3, merits further studies. Nominally significant linkage to CD was found in 314 families including affected sib pairs. Each of the five populations showed weak associations to several marker alleles, but the analysis revealed, however, no conclusive evidence for a primary functional gene or gene variant present in the total set of families. The results suggest that the CD risk due to 2q33 gene region is complex and may involve more than one susceptibility allele, which possibly differ from other autoimmune diseases.