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Genetic dissection between silent and clinically diagnosed symptomatic forms of coeliac disease in multiplex families |
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| Authors: | K. Mustalahti, P. Holopainen, K. Karell, M. M ki,J. Partanen |
| Affiliation: | c Medical School, Paediatric Research Centre, University of Tampere, University Hospital, Helsinki, Finland a Department of Paediatrics, Tampere University Hospital, Helsinki, Finland b Finnish Red Cross Blood Transfusion Service, Department of Tissue Typing, Helsinki, Finland |
| Abstract: | Background. Coeliac disease has a large variation in clinical outcome. In addition to the classical disease with malabsorption, many individuals have a silent form, in which subjective symptoms are missing but autoantibodies and mucosa lesions are identical to the symptomatic disease. Aim. To investigate whether differences in HLA DR-DQ genes explain the variation in outcome. Materials and methods. HLA DQ alleles were determined in 28 multiplex families with sibling pairs in which one had the symptomatic disease but the other had the silent form. Results. No differences in the distribution of HLA DR-DQ haplotypes could be observed. The clinically diagnosed coeliac disease seemed to have earlier onset than silent coeliac disease. Conclusions. Results indicate that the major genetic susceptibility locus, HLA DO, does not determine the exact clinical outcome of coeliac disease. |
| Keywords: | coeliac disease HLA DR-DQ gene |
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