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Genetic dissection between silent and clinically diagnosed symptomatic forms of coeliac disease in multiplex families
K Mustalahti1, P Holopainen, K Karell
1Medical School Paediatric Research Centre, University of Tampere, Finland.
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 subject 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 DQ, does not determine the exact clinical outcome of coeliac disease.
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