Abstract Title:

Genetic dissection between silent and clinically diagnosed symptomatic forms of coeliac disease in multiplex families.

Abstract Source:

Dig Liver Dis. 2002 Dec ;34(12):842-5. PMID: 12643291

Abstract Author(s):

K Mustalahti, P Holopainen, K Karell, M Mäki, J Partanen

Article Affiliation:

Medical 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.

Study Type : Human Study
Additional Links
Additional Keywords : HLA-DQ2/DQ8 : CK(24) : AC(0)

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